ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=)

gnomAD frequency: 0.00002  dbSNP: rs373961067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174590 SCV000225912 uncertain significance not provided 2015-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001480382 SCV001684698 likely benign Charcot-Marie-Tooth disease axonal type 2C 2023-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415743 SCV002726929 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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