ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.694G>T (p.Ala232Ser)

dbSNP: rs72658857
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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 RCV001213184 SCV001384802 uncertain significance Familial hypercholesterolemia 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000850043 SCV002793799 uncertain significance Hypercholesterolemia, familial, 1 2021-08-11 criteria provided, single submitter clinical testing
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz RCV000850043 SCV000992182 likely benign Hypercholesterolemia, familial, 1 2019-01-01 no assertion criteria provided clinical testing

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