ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.345C>G (p.Arg115=) (rs150144164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631374 SCV000752435 benign Familial hypercholesterolemia 2020-12-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000631374 SCV001341920 likely benign Familial hypercholesterolemia 2018-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420939 SCV001623400 likely benign not specified 2021-05-02 criteria provided, single submitter clinical testing

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