ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) (rs56177950)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000174158 SCV000605453 benign not specified 2016-04-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425445 SCV000510965 benign not provided 2016-06-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174158 SCV000225407 benign not specified 2014-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287479 SCV000375972 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344824 SCV000375973 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383127 SCV000375974 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291369 SCV000375975 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348628 SCV000375976 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395906 SCV000375977 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228889 SCV000290597 benign Charcot-Marie-Tooth disease type 2C 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174158 SCV000313769 benign not specified criteria provided, single submitter clinical testing

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