ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2999+8A>G

gnomAD frequency: 0.00002  dbSNP: rs752443893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838448 SCV001390316 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838448 SCV002816246 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-14 criteria provided, single submitter clinical testing

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