ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr)

dbSNP: rs758194385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001837077 SCV002097400 pathogenic Hypercholesterolemia, familial, 1 2022-02-15 criteria provided, single submitter clinical testing

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