Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145135 | SCV000192181 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2014-05-20 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726421 | SCV000344518 | uncertain significance | not provided | 2016-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726421 | SCV000525055 | likely benign | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000726421 | SCV001114127 | likely benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965091 | SCV004777766 | likely benign | ASPM-related disorder | 2020-10-12 | 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). |