Submissions for variant NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) (rs3742030)

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Total submissions: 13

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000125613	SCV000605451	benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713884	SCV000844524	benign	not provided	2017-09-28	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000125613	SCV000340917	benign	not specified	2016-05-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000125613	SCV000169070	benign	not specified	2014-06-05	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.
Illumina Clinical Services Laboratory,Illumina	RCV000357119	SCV000376194	benign	Metatrophic dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000259885	SCV000376195	benign	Distal spinal muscular atrophy, congenital nonprogressive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000317460	SCV000376196	benign	Brachyolmia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000388208	SCV000376197	benign	Scapuloperoneal spinal muscular atrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000277523	SCV000376198	benign	Spondylometaphyseal dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000330660	SCV000376199	benign	Charcot-Marie-Tooth disease, type 2	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000462366	SCV000560184	benign	Charcot-Marie-Tooth disease type 2C	2017-01-23	criteria provided, single submitter	clinical testing
OMIM	RCV000005297	SCV000025475	association	Sodium serum level quantitative trait locus 1	2009-08-18	no assertion criteria provided	literature only
PreventionGenetics	RCV000125613	SCV000313782	benign	not specified		criteria provided, single submitter	clinical testing

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