ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.222C>T (p.Ile74=)

dbSNP: rs199630684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001395414 SCV001597124 likely benign Hypercholesterolemia, familial, 4 2024-11-03 criteria provided, single submitter clinical testing
GENinCode PLC RCV001395414 SCV005441703 likely benign Hypercholesterolemia, familial, 4 2023-02-10 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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