ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.567G>C (p.Val189=)

dbSNP: rs753329861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183224 SCV001348899 likely benign Familial hypercholesterolemia 2019-02-16 criteria provided, single submitter clinical testing
Invitae RCV001183224 SCV001698222 likely benign Familial hypercholesterolemia 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350131 SCV002653900 likely benign Cardiovascular phenotype 2019-10-29 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 RCV000508908 SCV000606162 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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