ClinVar Miner

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

dbSNP: rs376040866
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Eurofins Ntd Llc (ga) RCV000041140 SCV000232792 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041140 SCV000315749 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344685 SCV000480617 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392033 SCV000480618 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001575375 SCV000714454 benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26969326)
Athena Diagnostics RCV000041140 SCV001146197 benign not specified 2020-03-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001575375 SCV002049321 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Invitae RCV001575375 SCV002418118 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001575375 SCV003917660 benign not provided 2024-03-01 criteria provided, single submitter clinical testing TMC1: BS1, BS2

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