ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1431C>T (p.Asp477=)

gnomAD frequency: 0.00003  dbSNP: rs368610522
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191574 SCV001359443 likely benign Familial hypercholesterolemia 2018-11-14 criteria provided, single submitter clinical testing
Invitae RCV001191574 SCV001694553 likely benign Familial hypercholesterolemia 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395229 SCV002702798 likely benign Cardiovascular phenotype 2021-04-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478084 SCV004219949 likely benign not provided 2022-09-08 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508863 SCV000606422 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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