ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.35_39del (p.Leu12fs)

dbSNP: rs1664202070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV001255938 SCV001432583 pathogenic Hypercholesterolemia, familial, 1 2019-06-05 criteria provided, single submitter research

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