ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2004G>A (p.Glu668=)

dbSNP: rs1408395014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186131 SCV001352475 likely benign Familial hypercholesterolemia 2019-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001186131 SCV005789135 likely benign Familial hypercholesterolemia 2024-02-14 criteria provided, single submitter clinical testing

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