ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2333G>A (p.Arg778His)

gnomAD frequency: 0.00001  dbSNP: rs201595604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945301 SCV002193380 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001945301 SCV002797121 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-02 criteria provided, single submitter clinical testing

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