Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV001731251 | SCV002499755 | likely pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 2022-04-19 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); For recessive disorders, detected in trans with a pathogenic variant (PM3); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3). |
| Baylor Genetics | RCV001731251 | SCV003836295 | pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 2022-03-03 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV001731251 | SCV001981695 | pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 2021-10-21 | no assertion criteria provided | literature only |