Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000440904 | SCV000510866 | likely benign | not provided | 2016-10-11 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000440904 | SCV001026202 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440904 | SCV001888227 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915161 | SCV004735004 | likely benign | RBBP8-related condition | 2019-04-16 | criteria provided, single submitter | 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). |
Genetic Services Laboratory, |
RCV000118130 | SCV000152474 | 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. |