ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1153-10C>T (rs149541389)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000125616 SCV000605452 benign not specified 2016-04-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713877 SCV000844517 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125616 SCV000335050 benign not specified 2015-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000125616 SCV000169073 benign not specified 2014-06-06 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 RCV000312323 SCV000376044 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366929 SCV000376045 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272390 SCV000376046 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308392 SCV000376047 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363078 SCV000376048 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268447 SCV000376049 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233101 SCV000290590 benign Charcot-Marie-Tooth disease type 2C 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000125616 SCV000313766 benign not specified criteria provided, single submitter clinical testing

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