Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000893498 | SCV001037436 | benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262809 | SCV001440816 | likely benign | Osteopathia striata with cranial sclerosis | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975650 | SCV004786546 | benign | AMER1-related disorder | 2021-05-24 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |