Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945563 | SCV001091595 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585875 | SCV001819189 | likely benign | not provided | 2021-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970646 | SCV004784123 | likely benign | ATP7A-related condition | 2019-08-14 | 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). |
Natera, |
RCV001279989 | SCV001467130 | likely benign | Menkes kinky-hair syndrome | 2020-08-12 | no assertion criteria provided | clinical testing |