ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.854-4G>A (rs371733585)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253460 SCV000231776 likely benign not specified 2018-04-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000253460 SCV000313788 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357723 SCV000376068 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262912 SCV000376069 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318113 SCV000376070 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354420 SCV000376071 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259516 SCV000376072 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333504 SCV000376073 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000253460 SCV000525061 likely benign not specified 2018-02-23 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 RCV000469304 SCV000560179 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000253460 SCV000605456 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing

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