ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys)

gnomAD frequency: 0.00002  dbSNP: rs199966747
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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 RCV001838181 SCV001227827 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838181 SCV002783000 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-11 criteria provided, single submitter clinical testing

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