ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1824+4C>T (rs147259744)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000295265 SCV000335788 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379242 SCV000375954 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287378 SCV000375955 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344740 SCV000375956 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397423 SCV000375957 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309687 SCV000375958 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347714 SCV000375959 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000295265 SCV000528807 likely benign not specified 2017-01-24 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.
Invitae RCV000531074 SCV000646245 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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