Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088767 | SCV000825678 | likely benign | Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728139 | SCV000855673 | uncertain significance | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728139 | SCV001780271 | likely benign | not provided | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938043 | SCV004754594 | likely benign | DCDC2-related condition | 2023-08-22 | 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). |