ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.123C>T (p.Ser41=)

dbSNP: rs1555802284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376946 SCV002672469 likely benign Cardiovascular phenotype 2022-05-29 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508910 SCV000606019 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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