Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000346292 | SCV000343821 | likely benign | not specified | 2016-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000861398 | SCV001001698 | likely benign | Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848066 | SCV002104813 | likely benign | Hereditary spastic paraplegia | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437051 | SCV004163198 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | WASHC5: BP4 |
Prevention |
RCV003957505 | SCV004780013 | likely benign | WASHC5-related condition | 2022-04-29 | 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). |