ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2320G>A (p.Asp774Asn) (rs138190838)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000454979 SCV000540904 uncertain significance Familial hypercholesterolemia 1 2017-03-27 criteria provided, single submitter clinical testing
Color RCV001178333 SCV001342739 likely benign Familial hypercholesterolemia 2019-01-31 criteria provided, single submitter clinical testing

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