Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000270374 | SCV000481477 | uncertain significance | Non-syndromic X-linked intellectual disability | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912586 | SCV004731291 | likely benign | PAK3-related condition | 2020-01-03 | 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). |