Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469292 | SCV000561842 | benign | Perlman syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000469292 | SCV001483104 | uncertain significance | Perlman syndrome | 2020-09-18 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Sema4, |
RCV000469292 | SCV002532431 | likely benign | Perlman syndrome | 2021-10-27 | criteria provided, single submitter | curation |