ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) (rs769225216)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000390146 SCV000375960 uncertain significance Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312726 SCV000375961 uncertain significance Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369789 SCV000375962 uncertain significance Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277885 SCV000375963 uncertain significance Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297793 SCV000375964 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354976 SCV000375965 uncertain significance Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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