Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727273 | SCV000278802 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000222163 | SCV000593440 | likely benign | not specified | 2016-07-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727273 | SCV000707164 | uncertain significance | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727273 | SCV001026911 | likely benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137830 | SCV003825138 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937863 | SCV004748646 | likely benign | ASPM-related condition | 2019-10-15 | 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). |