Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730912 | SCV000858679 | uncertain significance | not provided | 2017-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087061 | SCV001098184 | likely benign | Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953321 | SCV004767580 | likely benign | DCDC2-related condition | 2023-03-02 | 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). |