Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514415 | SCV000609644 | likely benign | not provided | 2017-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000514415 | SCV001120542 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915135 | SCV004744889 | benign | ANK3-related condition | 2021-08-09 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV000116333 | SCV000150254 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |