ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.651C>T (p.Ala217=)

gnomAD frequency: 0.00090  dbSNP: rs72654468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960083 SCV001107031 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960083 SCV002543945 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing APOE: BP4, BP7
Ambry Genetics RCV002363475 SCV002658314 likely benign Cardiovascular phenotype 2022-02-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503000 SCV002809400 likely benign Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia 2021-12-01 criteria provided, single submitter clinical testing

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