ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)

dbSNP: rs1554983076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503732 SCV000593786 pathogenic Congenital generalized lipodystrophy type 2 2016-05-13 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000503732 SCV004810246 pathogenic Congenital generalized lipodystrophy type 2 2024-04-04 criteria provided, single submitter clinical testing

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