Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445480 | SCV000536966 | likely benign | Monogenic diabetes | 2017-12-08 | criteria provided, single submitter | research | ACMG criteria: BP4 (8 predictors), BP1 (missense in gene with truncating cause disease), (no homozygotes in ExAC)= likely benign |
Eurofins Ntd Llc |
RCV000727320 | SCV000707542 | uncertain significance | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727320 | SCV000724956 | likely benign | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081278 | SCV001000755 | likely benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000592736 | SCV001365668 | likely benign | not specified | 2020-01-14 | criteria provided, single submitter | clinical testing | The p.Arg681Gly variant in ALMS1 is classified as likely benign because it has been identified in 0.3% (74/24186) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4. |
Ambry Genetics | RCV002418344 | SCV002722690 | likely benign | Cardiovascular phenotype | 2021-07-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Natera, |
RCV001081278 | SCV002080438 | benign | Alstrom syndrome | 2019-10-22 | no assertion criteria provided | clinical testing |