Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000517237 | SCV000612463 | benign | not specified | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000949364 | SCV001095614 | benign | not provided | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259983 | SCV002539147 | benign | Acrokeratosis verruciformis of Hopf | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259982 | SCV002539148 | benign | Keratosis follicularis | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925534 | SCV004745282 | likely benign | ATP2A2-related disorder | 2019-10-31 | 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). |