ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1911C>T (p.Ser637=)

gnomAD frequency: 0.00001  dbSNP: rs373570349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237872 SCV000295751 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237872 SCV000322986 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
Color Diagnostics, LLC DBA Color Health RCV000775080 SCV000909184 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000775080 SCV001732000 benign Familial hypercholesterolemia 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411106 SCV002720564 benign Cardiovascular phenotype 2021-12-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
All of Us Research Program, National Institutes of Health RCV000237872 SCV004818465 likely benign Hypercholesterolemia, familial, 1 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745309 SCV005360127 likely benign LDLR-related disorder 2024-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.