ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2100C>T (p.Asp700=)

gnomAD frequency: 0.00002  dbSNP: rs759858813
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001126805 SCV001286050 uncertain significance Hypercholesterolemia, familial, 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health RCV001181564 SCV001346739 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV001181564 SCV002438241 likely benign Familial hypercholesterolemia 2023-09-03 criteria provided, single submitter clinical testing

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.