ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1338del (p.Ser447fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center RCV002283589 SCV002572497 pathogenic Abnormal circulating lipid concentration no assertion criteria provided clinical testing

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