ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11078C>A (p.Thr3693Asn)

gnomAD frequency: 0.00001  dbSNP: rs776068398
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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 RCV002044645 SCV002111512 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002044645 SCV002793523 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-07 criteria provided, single submitter clinical testing

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