Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001462145 | SCV001666057 | likely benign | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001797178 | SCV002038712 | likely benign | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820157 | SCV002065651 | uncertain significance | not specified | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930963 | SCV004744030 | likely benign | DIAPH1-related condition | 2019-09-23 | 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). |