ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) (rs142094977)

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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 RCV000037565 SCV000061223 benign not specified 2019-02-13 criteria provided, single submitter clinical testing The p.Met1651Thr variant in MYH9 is classified as benign because although it has been previously reported in several individuals with hearing loss (Provaznikova 2009, Strasser 2012, Sommen 2016, Sloan-Heggen 2016, LMM data), it has also bee n identified in 0.288% (371/128738) of Eurpean chromosomes by gnomAD (http://gno mad.broadinstitute.org). It has also been identified by our laboratory in an una ffected parent and computational prediction tools and conservation analyses sugg est that this variant may not impact the protein. ACMG/AMP criteria applied: BA1 , BP4, BS2_Supporting.
Illumina Clinical Services Laboratory,Illumina RCV000338710 SCV000438324 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392887 SCV000438325 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512726 SCV000609081 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000512726 SCV000977500 likely benign not provided 2018-04-02 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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