Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145153 | SCV000192201 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2014-06-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000329933 | SCV000352678 | uncertain significance | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000910458 | SCV001055325 | likely benign | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895022 | SCV004708534 | likely benign | ASPM-related condition | 2023-04-25 | 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). |