ClinVar Miner

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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