Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333079 | SCV001525565 | uncertain significance | Saldino-Mainzer syndrome | 2019-12-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001333079 | SCV001538947 | likely benign | Saldino-Mainzer syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002486331 | SCV002784649 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2022-05-14 | criteria provided, single submitter | clinical testing |