ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1054_1056del (p.Cys352del)

dbSNP: rs2077364374
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262749 SCV001440731 likely pathogenic Hypercholesterolemia, familial, 1 2019-01-01 criteria provided, single submitter clinical testing

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