{{Rsnum
|rsid=41298135
|Gene=MYO7A
|Chromosome=11
|position=77158332
|Orientation=plus
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MYO7A
}}{{omim
|id=276903
|rsnum=41298135
|variant=0006
}}

{{ClinVar
|rsid=41298135
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=76869378
|CHROM=11
|GMAF=0.0014
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050260000000040516110100
|GENEINFO=MYO7A:4647
|GENE_NAME=MYO7A
|GENE_ID=4647
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.76869378G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=276903.0006
|CLNSIG=5
|CLNCUI=C1848638
|CLNDBN=Usher syndrome, type 1B; AllHighlyPenetrant
|Disease=Usher syndrome; AllHighlyPenetrant
|CLNACC=RCV000012626.15; RCV000036251.1
|Tags=PM;S3D;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=MedGen
|CLNDSDBID=C1848638; CN169374
|COMMON=0
}}

{{GET Evidence
|gene=MYO7A
|aa_change=Arg302His
|aa_change_short=R302H
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs41298135
|overall_frequency_n=18
|overall_frequency_d=10558
|overall_frequency=0.00170487
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=!
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=2
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.948
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=0
|summary_short=May cause Usher Type I syndrome in a recessive manner (congenital deafness and loss of vision in childhood), but reports are conflicting and there is no statistical significance in published observations.
}}

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