ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)

gnomAD frequency: 0.00008  dbSNP: rs387906355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000007005 SCV002517537 pathogenic Congenital generalized lipodystrophy type 1 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000007005 SCV002808733 pathogenic Congenital generalized lipodystrophy type 1 2022-04-08 criteria provided, single submitter clinical testing
OMIM RCV000007005 SCV000027201 pathogenic Congenital generalized lipodystrophy type 1 2002-05-01 no assertion criteria provided literature only

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