ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.238_240GAA[3] (p.Glu83del) (rs376040866)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041140 SCV000064831 benign not specified 2011-04-08 criteria provided, single submitter clinical testing Glu83del in exon 8 of TMC1: This variant is not expected to have clinical signif icance because it has been found in 5/114 or 4.39% of White individuals, none of whom had a variant on the other allele and two cases had other clear etiologies for hearing loss.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041140 SCV000232792 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041140 SCV000315749 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344685 SCV000480617 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392033 SCV000480618 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000041140 SCV000714454 likely benign not specified 2017-11-10 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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