Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145104 | SCV000192147 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000279948 | SCV000339701 | benign | not specified | 2016-02-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000909960 | SCV000535512 | likely benign | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000909960 | SCV001054798 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952696 | SCV004771027 | likely benign | ASPM-related condition | 2020-01-22 | 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). |