Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002278181 | SCV002566192 | likely benign | Ehlers-Danlos syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494754 | SCV002794934 | likely benign | Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004706736 | SCV005225574 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004751402 | SCV000313349 | benign | TNXB-related disorder | 2024-05-09 | no assertion criteria provided | 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). |