ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) (rs11143384)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041143 SCV000730165 likely benign not specified 2017-11-06 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 RCV000274209 SCV000480621 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313087 SCV000480622 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041143 SCV000064834 benign not specified 2011-11-03 criteria provided, single submitter clinical testing Arg141Trp in exon 9 of TMC1: This variant is not expected to have clincial signi ficance because it has been reported in dbSNP (rs11143384) at a frequency of 0.5 % (30/5670) of control chromosomes. In addition, this residue is not well conser ved across mammals and distant species.
PreventionGenetics RCV000041143 SCV000315750 benign not specified criteria provided, single submitter clinical testing

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