ClinVar Miner

Submissions for variant NM_024022.2(TMPRSS3):c.617-3_617-2dup

dbSNP: rs34966432
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Total submissions: 7
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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 RCV000039363 SCV000063047 benign not specified 2007-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039363 SCV000314238 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039363 SCV000345447 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310575 SCV000436168 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039363 SCV000730616 benign not specified 2017-09-15 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001807765 SCV002058046 benign Autosomal recessive nonsyndromic hearing loss 8 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV002054756 SCV002410667 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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