ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.408C>T (p.Asp136=)

gnomAD frequency: 0.00002  dbSNP: rs759738744
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191573 SCV001359438 likely benign Familial hypercholesterolemia 2018-12-31 criteria provided, single submitter clinical testing
Invitae RCV001191573 SCV002373155 likely benign Familial hypercholesterolemia 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV002225640 SCV002504273 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002323877 SCV002629299 likely benign Cardiovascular phenotype 2020-06-30 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.
Fulgent Genetics, Fulgent Genetics RCV000508857 SCV002807202 likely benign Hypercholesterolemia, familial, 1 2021-09-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000508857 SCV004820163 likely benign Hypercholesterolemia, familial, 1 2024-01-11 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508857 SCV000606107 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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