ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.712+10C>T (rs115657305)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713885 SCV000253574 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308398 SCV000376110 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361087 SCV000376111 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266396 SCV000376112 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321443 SCV000376113 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376042 SCV000376114 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262983 SCV000376115 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000431129 SCV000525747 likely benign not specified 2017-09-15 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000431129 SCV000605447 likely benign not specified 2016-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713885 SCV000844525 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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