ClinVar Miner

Submissions for variant NM_012232.6(CAVIN1):c.160del (p.Val54fs) (rs1567782465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006982 SCV000027178 pathogenic Lipodystrophy, congenital generalized, type 4 2010-03-12 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000006982 SCV000891547 pathogenic Lipodystrophy, congenital generalized, type 4 2017-12-30 no assertion criteria provided curation

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