ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.238-6T>C

dbSNP: rs200048290
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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 RCV000771619 SCV000904223 benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001838149 SCV001008400 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-10-09 criteria provided, single submitter clinical testing

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