ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12444C>T (p.Ala4148=)

dbSNP: rs757789853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002068438 SCV002381603 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883571 SCV004702897 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing APOB: PM2:Supporting, BP4, BP7

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