ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) (rs34071623)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204746 SCV000259943 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242020 SCV000313774 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291574 SCV000375912 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346606 SCV000375913 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395902 SCV000375914 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292902 SCV000375915 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352499 SCV000375916 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395892 SCV000375917 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000242020 SCV000615856 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000242020 SCV001158980 benign not specified 2019-01-24 criteria provided, single submitter clinical testing

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