Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330785 | SCV001522586 | uncertain significance | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2019-10-29 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003963221 | SCV004795496 | likely benign | ADPRS-related disorder | 2019-04-26 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |