ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2407_2424del (p.Cys803_Leu808del) (rs879255201)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505234 SCV000599417 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia RCV000505234 SCV001432637 likely pathogenic Familial hypercholesterolemia 1 2019-01-26 criteria provided, single submitter research

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