ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3670C>T (p.Arg1224Trp)

gnomAD frequency: 0.00010  dbSNP: rs148959244
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239049 SCV000296916 uncertain significance Hypercholesterolemia, familial, 1 2015-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519856 SCV003466063 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699267 SCV001920053 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699267 SCV001963427 likely benign not provided no assertion criteria provided clinical testing

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