Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946237 | SCV001092348 | likely benign | Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis | 2023-03-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003117648 | SCV003798604 | uncertain significance | not provided | 2022-08-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003942993 | SCV004765183 | likely benign | DCDC2-related condition | 2023-10-20 | 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). |