Submissions for variant NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)

gnomAD frequency: 0.00021  dbSNP: rs139580010

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435520	SCV000531261	likely benign	not specified	2016-09-01	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.
Eurofins Ntd Llc (ga)	RCV000726593	SCV000701684	uncertain significance	not provided	2016-09-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001479007	SCV001683295	likely benign	Charcot-Marie-Tooth disease axonal type 2C	2024-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436333	SCV002745183	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.