ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5069T>A (p.Phe1690Tyr)

dbSNP: rs751059071
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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 RCV002480610 SCV002777009 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002480610 SCV005853278 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-15 criteria provided, single submitter clinical testing

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