ClinVar Miner

Submissions for variant NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)

gnomAD frequency: 0.00001  dbSNP: rs121434501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247278 SCV002518641 pathogenic Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000008988 SCV000029202 pathogenic Congenital generalized lipodystrophy type 3 2008-04-01 no assertion criteria provided literature only

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