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: 8
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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
Labcorp Genetics (formerly Invitae), Labcorp 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 2024-05-09 criteria provided, single submitter clinical testing
GENinCode PLC RCV001191573 SCV005619962 likely benign Familial hypercholesterolemia 2025-01-07 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7).
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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