Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698030 | SCV000726177 | benign | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000609105 | SCV000856036 | likely benign | not specified | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000954349 | SCV001100977 | benign | Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498952 | SCV002805124 | likely benign | Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945523 | SCV004762323 | likely benign | DCDC2-related condition | 2019-11-08 | 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). |