ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs)

dbSNP: rs1663251692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256748 SCV001433157 likely pathogenic Hypercholesterolemia, familial, 1 2019-09-05 criteria provided, single submitter clinical testing

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