ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2052C>T (p.Ala684=)

dbSNP: rs760034984
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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 RCV002131636 SCV002460173 likely benign Familial hypercholesterolemia 2021-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002511136 SCV002822510 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing LDLR: BP4, BP7

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