ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)

dbSNP: rs104894100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007006 SCV000027202 pathogenic Congenital generalized lipodystrophy type 1 2002-05-01 no assertion criteria provided literature only

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