ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.402C>T (p.Cys134=)

dbSNP: rs879254515
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483001 SCV001687382 likely benign Familial hypercholesterolemia 2022-05-15 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508760 SCV000606106 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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