ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13638A>C (p.Thr4546=)

dbSNP: rs777726812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186684 SCV001353227 likely benign Familial hypercholesterolemia 2019-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068441 SCV002469923 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-07-11 criteria provided, single submitter clinical testing

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