ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.387-4C>T (rs12305439)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000247653 SCV000615858 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000247653 SCV000514973 benign not specified 2015-04-26 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 RCV000278187 SCV000376164 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335675 SCV000376165 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404952 SCV000376166 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314703 SCV000376167 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367111 SCV000376168 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396109 SCV000376169 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234589 SCV000290599 benign Charcot-Marie-Tooth disease type 2C 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247653 SCV000313781 benign not specified criteria provided, single submitter clinical testing

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