ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.91G>A (p.Glu31Lys)

gnomAD frequency: 0.00049  dbSNP: rs201672011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002225641 SCV002504249 likely benign not provided 2019-05-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV005027591 SCV005648352 uncertain significance Alzheimer disease 3; Alzheimer disease 2; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia 2024-06-05 criteria provided, single submitter clinical testing
OMIM RCV000019453 SCV000039743 pathogenic APOE5 VARIANT 1991-04-01 no assertion criteria provided literature only

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