ClinVar Miner

Submissions for variant NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)

dbSNP: rs1207466199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000023264 SCV002019561 pathogenic Congenital generalized lipodystrophy type 4 2019-10-20 criteria provided, single submitter clinical testing
OMIM RCV000023264 SCV000044555 pathogenic Congenital generalized lipodystrophy type 4 2010-09-01 no assertion criteria provided literature only

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