ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) (rs17058153)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041130 SCV000717807 benign not specified 2017-10-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000288900 SCV000480633 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350979 SCV000480634 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041130 SCV000064821 benign not specified 2009-08-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000041130 SCV000315745 benign not specified criteria provided, single submitter clinical testing

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