ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.951A>G (p.Glu317=)

dbSNP: rs1568600233
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
Color Diagnostics, LLC DBA Color Health RCV000773373 SCV000907067 likely benign Familial hypercholesterolemia 2018-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000773373 SCV004426675 likely benign Familial hypercholesterolemia 2023-01-21 criteria provided, single submitter clinical testing

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