ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser)

gnomAD frequency: 0.00006  dbSNP: rs546747242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838374 SCV001486965 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838374 SCV002793465 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480978 SCV004224847 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing

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