ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1060+24C>A

gnomAD frequency: 0.00003  dbSNP: rs370478935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238221 SCV000295178 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001466592 SCV001670596 likely benign Familial hypercholesterolemia 2022-11-08 criteria provided, single submitter clinical testing
GeneDx RCV002225533 SCV002504159 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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