{{Rsnum
|rsid=35953626
|Gene=EVC
|Chromosome=4
|position=5753797
|Orientation=plus
|GMAF=0.05464
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EVC
}}{{omim
|id=604831
|rsnum=35953626
|variant=0005
}}

{{ population diversity
| geno1 = (C;C)
| geno2 = (C;T)
| geno3 = (T;T)
| CEU | 100.0 | 0.0 | 0.0
| CHB | 97.8 | 2.2 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 53.3 | 40.0 | 6.7
}}

{{ClinVar
|rsid=35953626
|Reversed=1
|FwdREF=C
|FwdALT=A,G,T
|REF=G
|ALT=A,C,T
|RSPOS=5755524
|CHROM=4
|GMAF=0.0549
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x05016000000015051e110104
|GENEINFO=EVC:2121
|GENE_NAME=EVC
|GENE_ID=2121
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.5755524G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=604831.0005
|CLNSIG=5
|CLNCUI=C0013903
|CLNDBN=Chondroectodermal dysplasia
|Disease=Chondroectodermal dysplasia
|CLNACC=RCV000005670.1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM;NOV
|CAF=0.9454; 0.05464; .
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0013903:225500:289:62501005
|COMMON=1
}}

{{GET Evidence
|gene=EVC
|aa_change=Arg443Gln
|aa_change_short=R443Q
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs35953626
|overall_frequency_n=851
|overall_frequency_d=10758
|overall_frequency=0.0791039
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.553
|genetests_testable=Y
|nblosum100=0
|max_or_disease_name=Ellis-van Creveld Syndrome
|max_or_case_pos=0
|max_or_case_neg=0
|max_or_control_pos=33
|max_or_control_neg=79
|autoscore=3
|webscore=N
|n_web_uneval=6
|variant_evidence=0
|clinical_importance=1
|summary_short=Probably benign. Implicated in causing Ellis-van Creveld Syndrome in a dominant manner (despite the disease typically being recessive), but the high allele frequency of this variant (7.8% in GET-Evidence data) strongly contradicts any severe pathogenic effect.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}