ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3049A>C (p.Ser1017Arg)

gnomAD frequency: 0.00013  dbSNP: rs149323475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997068 SCV001152161 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483553 SCV002777368 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-25 criteria provided, single submitter clinical testing
Invitae RCV002483553 SCV004604254 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-12 criteria provided, single submitter clinical testing

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