Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000377253 | SCV000343006 | uncertain significance | not provided | 2016-06-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086217 | SCV001091314 | likely benign | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920148 | SCV004733928 | likely benign | WDR35-related condition | 2022-09-19 | 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). |