ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) (rs56217500)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000430273 SCV000605457 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000430273 SCV000615864 benign not specified 2017-04-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000430273 SCV000855397 likely benign not specified 2017-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000430273 SCV000514976 likely benign not specified 2017-07-13 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 RCV000284913 SCV000376098 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339943 SCV000376099 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375941 SCV000376100 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281019 SCV000376101 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336022 SCV000376102 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402631 SCV000376103 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000200197 SCV000253575 likely benign Charcot-Marie-Tooth disease type 2C 2017-10-27 criteria provided, single submitter clinical testing

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