ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.656G>T (p.Arg219Leu)

dbSNP: rs201606169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002487580 SCV002787893 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002487580 SCV004574699 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-10-23 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000997080 SCV001926247 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000997080 SCV001963085 likely benign not provided no assertion criteria provided clinical testing

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