Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000349498 | SCV005375279 | likely benign | Hypercholesterolemia, familial, 1 | 2024-08-30 | reviewed by expert panel | curation | The NM_000527.5(LDLR):c.498C>T (p.Ala166=) variant is classified as Likely Benign for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes BS1, BP4 and BP7 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (spcification version 1.2) on 30 August 2024. The supporting evidence is as follows: BS1: FAF=0.004221 (0.42%) in African/African American exomes + genomes (gnomAD v4.1.0). BP4: No REVEL, splicing evaluation required. Functional data on splicing not available. A) not on limits. B) does not create a GT. C) there is a GT nearby. MES scores: variant cryptic = -2.92, wt cryptic = -2.92, canonical donor = 7.67. Cryptic scores are negative, so cryptic site is not used - variant is not predicted to alter splicing. BP7: Variant is synonymous and meets BP4. |
Illumina Laboratory Services, |
RCV000349498 | SCV000410527 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000775040 | SCV000627038 | benign | Familial hypercholesterolemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775040 | SCV000909137 | benign | Familial hypercholesterolemia | 2017-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338917 | SCV002643527 | likely benign | Cardiovascular phenotype | 2017-12-27 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477895 | SCV004219984 | benign | not provided | 2023-03-07 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000349498 | SCV000606134 | benign | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research | ||
Natera, |
RCV000775040 | SCV002086366 | likely benign | Familial hypercholesterolemia | 2019-10-25 | no assertion criteria provided | clinical testing |