ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8635A>T (p.Asn2879Tyr)

gnomAD frequency: 0.00004  dbSNP: rs200367807
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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 RCV002497671 SCV002806148 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002497671 SCV004603517 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-12-05 criteria provided, single submitter clinical testing

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