Submissions for variant NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)

gnomAD frequency: 0.00054  dbSNP: rs541606391

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000860565	SCV000293259	likely benign	not provided	2021-06-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25473036)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000235727	SCV000605450	uncertain significance	not specified	2016-08-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234485	SCV001000651	benign	Charcot-Marie-Tooth disease axonal type 2C	2023-12-20	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174138	SCV001337259	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002401904	SCV002706028	likely benign	Inborn genetic diseases	2019-09-18	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	RCV000860565	SCV004131860	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TRPV4: BS1, BS2