ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1035G>A (p.Gln345=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GENinCode PLC RCV004820812 SCV005441714 likely benign Familial hypercholesterolemia 2024-09-30 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 conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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