ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg) (rs747297291)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders,Peking University First Hospital RCV000754918 SCV000787619 likely pathogenic Congenital generalized lipodystrophy type 2 2018-05-11 no assertion criteria provided research

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