Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873124 | SCV001015058 | benign | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501325 | SCV002795729 | likely benign | Child syndrome; CK syndrome | 2022-01-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955701 | SCV004768365 | likely benign | NSDHL-related disorder | 2022-05-06 | 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). |
Genome Diagnostics Laboratory, |
RCV000873124 | SCV001927052 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000873124 | SCV001965632 | likely benign | not provided | no assertion criteria provided | clinical testing |