ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10508C>T (p.Ser3503Leu)

gnomAD frequency: 0.00007  dbSNP: rs375284245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660658 SCV000782789 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001838078 SCV001403179 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284730 SCV001470676 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing

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