ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11712del (p.Asn3904fs) (rs587776852)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV001177288 SCV001341464 likely benign Familial hypercholesterolemia 2018-11-05 criteria provided, single submitter clinical testing
OMIM RCV000019485 SCV000039782 pathogenic Familial hypobetalipoproteinemia 1992-12-01 no assertion criteria provided literature only

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