ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1951G>C (p.Ala651Pro)

gnomAD frequency: 0.00004  dbSNP: rs377179209
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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 RCV002491541 SCV002797745 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491541 SCV003461990 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-09-27 criteria provided, single submitter clinical testing

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