ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2247C>T (p.Thr749=)

dbSNP: rs2077586087
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002198102 SCV002353203 likely benign Familial hypercholesterolemia 2024-11-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV002198102 SCV004359066 likely benign Familial hypercholesterolemia 2022-04-06 criteria provided, single submitter clinical testing

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