ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) (rs187864727)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000243440 SCV000605454 benign not specified 2015-09-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513890 SCV000609723 benign not provided 2017-03-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243440 SCV000700573 benign not specified 2017-04-14 criteria provided, single submitter clinical testing
GeneReviews RCV000202491 SCV000148052 pathogenic Skeletal dysplasia; Neuromuscular Diseases 2014-04-02 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000361514 SCV000376128 benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264502 SCV000376129 benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303216 SCV000376130 benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355529 SCV000376131 benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263101 SCV000376132 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315964 SCV000376133 benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789586 SCV000928942 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000232398 SCV000290601 benign Charcot-Marie-Tooth disease type 2C 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243440 SCV000313783 likely benign not specified criteria provided, single submitter clinical testing

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