ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1341C>T (p.His447=) (rs57316123)

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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 RCV000713878 SCV000844518 benign not provided 2017-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000248406 SCV000517869 benign not specified 2016-01-14 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 RCV000259589 SCV000376026 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298484 SCV000376027 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355661 SCV000376028 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263274 SCV000376029 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320824 SCV000376030 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377781 SCV000376031 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227008 SCV000290591 benign Charcot-Marie-Tooth disease type 2C 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248406 SCV000313767 benign not specified criteria provided, single submitter clinical testing

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