ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2479C>G (p.Pro827Ala)

dbSNP: rs1555204455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000498304 SCV000590826 uncertain significance Spondylometaphyseal dysplasia, Kozlowski type 2016-05-04 criteria provided, single submitter clinical testing

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