ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) (rs78871677)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036129 SCV000059781 benign not specified 2010-10-06 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. In additio n, this variant has been identified with a minor allele frequency of 3% (Greinwa ld, unpublished data), identified in 3/17 (17.6%) Black probands in our lab, and was found as a homozygous variant in 2 individuals (Usher UMD), one of whom was homozygous for pathogenic MYO7A nonsense variant.
PreventionGenetics,PreventionGenetics RCV000036129 SCV000303293 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350138 SCV000374350 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375278 SCV000374351 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278460 SCV000374352 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036129 SCV000513833 benign not specified 2016-06-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000959205 SCV001106102 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000959205 SCV001144665 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036129 SCV001157319 benign not specified 2018-07-12 criteria provided, single submitter clinical testing

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