ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) (rs121918386)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093352 SCV001250290 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Color RCV001181782 SCV001347006 likely benign Familial hypercholesterolemia 2019-07-02 criteria provided, single submitter clinical testing
OMIM RCV000019476 SCV000039769 pathogenic Familial hypobetalipoproteinemia 1989-06-15 no assertion criteria provided literature only

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