ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)

dbSNP: rs786205069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000004790 SCV002518617 pathogenic Congenital generalized lipodystrophy type 2 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000004790 SCV000024966 pathogenic Congenital generalized lipodystrophy type 2 2001-08-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003311636 SCV004011971 uncertain significance Berardinelli-Seip congenital lipodystrophy 2016-01-06 no assertion criteria provided literature only

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