ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1586+13G>A

gnomAD frequency: 0.00004  dbSNP: rs1165530512
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 RCV000776611 SCV000912228 likely benign Familial hypercholesterolemia 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000776611 SCV004513364 likely benign Familial hypercholesterolemia 2024-07-13 criteria provided, single submitter clinical testing

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