ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser)

gnomAD frequency: 0.00001  dbSNP: rs776875782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477772 SCV002785115 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002477772 SCV004594839 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-03-19 criteria provided, single submitter clinical testing

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