ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.396G>A (p.Pro132=)

dbSNP: rs114101785
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228423 SCV000290600 benign Charcot-Marie-Tooth disease axonal type 2C 2024-01-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000301536 SCV000335797 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV001705284 SCV000514974 benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173287 SCV001336370 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics RCV000301536 SCV001475707 benign not specified 2020-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374377 SCV002624500 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.
CeGaT Center for Human Genetics Tuebingen RCV001705284 SCV004131877 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TRPV4: BP4, BP7

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