ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2346G>A (p.Lys782=)

dbSNP: rs1057519688
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002179588 SCV002338586 likely benign Familial hypercholesterolemia 2022-08-09 criteria provided, single submitter clinical testing

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