Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000342564 | SCV000390915 | uncertain significance | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000502331 | SCV000593834 | likely benign | not specified | 2015-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000965971 | SCV001113254 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910189 | SCV004724843 | likely benign | KNL1-related condition | 2019-11-11 | 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). |