ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.96C>T (p.Phe32=)

gnomAD frequency: 0.00002  dbSNP: rs549017482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001464405 SCV001668373 likely benign Familial hypercholesterolemia 2023-12-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808060 SCV005426427 likely benign Hypercholesterolemia, familial, 1 2024-04-16 criteria provided, single submitter clinical testing
GENinCode PLC RCV001464405 SCV005619953 likely benign Familial hypercholesterolemia 2025-01-07 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7).

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