ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.1081G>A (p.Ala361Thr)

dbSNP: rs118204071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247233 SCV002517582 pathogenic Hyperlipidemia, familial combined, LPL related 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000001608 SCV000021764 pathogenic Hyperlipoproteinemia, type I 1993-03-31 no assertion criteria provided literature only

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