ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1491+10C>T (rs201815805)

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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 RCV000382061 SCV000615850 benign not specified 2017-02-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725182 SCV000334702 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000382061 SCV000522073 likely benign not specified 2018-02-07 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 RCV000361883 SCV000376002 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400610 SCV000376003 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308460 SCV000376004 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365568 SCV000376005 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273307 SCV000376006 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330168 SCV000376007 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465949 SCV000560187 likely benign Charcot-Marie-Tooth disease type 2C 2018-01-04 criteria provided, single submitter clinical testing

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