ClinVar Miner

Submissions for variant BSCL2, 258-BP DEL/12-BP INS

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004792 SCV000024968 pathogenic Congenital generalized lipodystrophy type 2 2001-08-01 no assertion criteria provided literature only

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