ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.129G>A (p.Lys43=)

dbSNP: rs1308223575
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506313 SCV001711234 likely benign Familial hypercholesterolemia 2023-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001506313 SCV004358466 likely benign Familial hypercholesterolemia 2023-11-20 criteria provided, single submitter clinical testing

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