Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000712327 | SCV000842797 | pathogenic | not provided | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000009331 | SCV001520878 | pathogenic | Ataxia-telangiectasia-like disorder 1 | 2020-01-17 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV000009331 | SCV002023515 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2023-09-04 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Center of Excellence, |
RCV000009331 | SCV004805146 | pathogenic | Ataxia-telangiectasia-like disorder 1 | 2024-03-17 | criteria provided, single submitter | research | |
Gene |
RCV000712327 | SCV005201979 | pathogenic | not provided | 2024-02-02 | criteria provided, single submitter | clinical testing | Published functional studies suggest the p.(W210C) variant results in slightly lower nuclease activity, diminishes the interaction with Nbs1, and has similar sensitivity to DNA damage when compared to wildtype (PMID: 22078559, 22705791, 23080121, 23388631); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35048780, 31908056, 18652530, 15574463, 22705791, 31033087, 37808486, 23388631, 21324166, 22078559, 23080121, 32668560, 27124789, 17674145, 21035407, 18568480, 16189143, 31130284, 18083591) |
OMIM | RCV000009331 | SCV000029549 | pathogenic | Ataxia-telangiectasia-like disorder 1 | 2005-01-15 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000009331 | SCV001133231 | pathogenic | Ataxia-telangiectasia-like disorder 1 | 2019-09-26 | no assertion criteria provided | clinical testing |