Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001280920 | SCV001521662 | pathogenic | Warsaw breakage syndrome | 2019-02-01 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001577234 | SCV001804581 | pathogenic | not provided | 2021-11-23 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32853555) |
Laboratory of Medical Genetics, |
RCV001280920 | SCV001976801 | pathogenic | Warsaw breakage syndrome | 2021-10-05 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP5 |
Institute of Medical Genetics and Applied Genomics, |
RCV001280920 | SCV003803089 | pathogenic | Warsaw breakage syndrome | 2023-02-15 | criteria provided, single submitter | clinical testing | |
3billion | RCV001280920 | SCV003841937 | pathogenic | Warsaw breakage syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.019%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000992470 / PMID: 34906519). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001280920 | SCV001468267 | likely pathogenic | Warsaw breakage syndrome | 2020-05-28 | no assertion criteria provided | clinical testing |