ClinVar Miner

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

dbSNP: rs200048290
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV000771619 SCV007495156 uncertain significance Familial hypercholesterolemia 2026-01-08 criteria provided, single submitter clinical testing BS1_Strong
Labcorp Genetics (formerly Invitae), Labcorp RCV001838149 SCV001008400 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2026-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771619 SCV000904223 benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing

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