ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) (rs267607149)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005303 SCV000025481 pathogenic Spondylometaphyseal dysplasia, Kozlowski type 2010-10-01 no assertion criteria provided literature only
OMIM RCV000005304 SCV000025482 pathogenic Spondyloepiphyseal dysplasia Maroteaux type 2010-10-01 no assertion criteria provided literature only
OMIM RCV000023424 SCV000044715 pathogenic Metatrophic dysplasia 2010-10-01 no assertion criteria provided literature only
GeneReviews RCV000202566 SCV000148042 pathogenic Skeletal dysplasia; Neuromuscular Diseases 2014-04-02 no assertion criteria provided literature only

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