ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) (rs185933892)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000249733 SCV000605458 benign not specified 2015-09-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262516 SCV000375966 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319293 SCV000375967 benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376316 SCV000375968 benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265422 SCV000375969 benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322807 SCV000375970 benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379591 SCV000375971 benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231731 SCV000290598 benign Charcot-Marie-Tooth disease type 2C 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249733 SCV000313770 likely benign not specified criteria provided, single submitter clinical testing

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