ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3935T>C (p.Met1312Thr)

gnomAD frequency: 0.00002  dbSNP: rs763989940
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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 RCV002487591 SCV002783994 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-13 criteria provided, single submitter clinical testing
Invitae RCV002487591 SCV004604852 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-28 criteria provided, single submitter clinical testing

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