ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) (rs111033183)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036153 SCV000059805 benign not specified 2010-10-06 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it has been i dentified in 3/17 (17.6%) Black probands in our lab, and as a homozygous variant in 2 individuals (Usher UMD), one of whom was homozygous for pathogenic MYO7A n onsense variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036153 SCV000229763 benign not specified 2014-09-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036153 SCV000303297 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404653 SCV000374380 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313203 SCV000374381 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356336 SCV000374382 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036153 SCV000513835 benign not specified 2016-06-28 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.
Athena Diagnostics Inc RCV000992404 SCV001144667 benign not provided 2019-02-15 criteria provided, single submitter clinical testing

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