ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3675C>T (p.His1225=)

gnomAD frequency: 0.00004  dbSNP: rs765467750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736483 SCV004565178 likely benign not provided 2022-12-22 criteria provided, single submitter clinical testing
Invitae RCV003779379 SCV004581837 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-21 criteria provided, single submitter clinical testing

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