ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.736C>T (p.Arg246Cys)

gnomAD frequency: 0.00009  dbSNP: rs121918395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019442 SCV000039732 pathogenic APOE2-DUNEDIN 1991-03-01 no assertion criteria provided literature only
OMIM RCV004556717 SCV005045803 pathogenic HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN 1991-03-01 no assertion criteria provided literature only

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