Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334193 | SCV001526973 | uncertain significance | Macrocephaly, dysmorphic facies, and psychomotor retardation | 2018-11-18 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV002070179 | SCV002399828 | likely benign | not provided | 2024-10-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973208 | SCV004792484 | likely benign | HERC1-related disorder | 2023-04-19 | no assertion criteria provided | 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). |