ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) (rs115976458)

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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 RCV000592513 SCV000703777 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000592513 SCV000717424 likely benign not specified 2017-12-21 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 RCV000328738 SCV000375990 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385499 SCV000375991 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293468 SCV000375992 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332180 SCV000375993 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389025 SCV000375994 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278046 SCV000375995 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000199632 SCV000253572 likely benign Charcot-Marie-Tooth disease type 2C 2017-10-17 criteria provided, single submitter clinical testing

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