ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13046A>G (p.Lys4349Arg)

gnomAD frequency: 0.00001  dbSNP: rs1261837542
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003789157 SCV004572649 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-08-03 criteria provided, single submitter clinical testing

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