ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10734C>T (p.Phe3578=)

gnomAD frequency: 0.00001  dbSNP: rs773361538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256754 SCV001433163 benign not specified 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV002067314 SCV002404570 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-03-26 criteria provided, single submitter clinical testing

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