ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) (rs121912634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000202481 SCV000148069 pathogenic Skeletal dysplasia 2014-04-02 no assertion criteria provided literature only
OMIM RCV000005284 SCV000025462 pathogenic Spondylometaphyseal dysplasia, Kozlowski type 2009-03-01 no assertion criteria provided literature only

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