ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2872G>A (p.Ala958Thr) (rs151036570)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151338 SCV000199312 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.Ala958Thr in exon 23 of MYH9: This variant is not expected to have clinical s ignificance because it has been identified in 0.2% (102/66426) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs151036570). In addition, this variant has been previously identified by our laboratory in two individuals with hearing loss that could be explained b y pathogenic variants in other genes, as well as in an unaffected parent.
Illumina Clinical Services Laboratory,Illumina RCV000387348 SCV000438408 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293055 SCV000438409 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726812 SCV000703222 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000151338 SCV000714908 likely benign not specified 2018-01-31 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.

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