Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Suma Genomics | RCV001638191 | SCV001847722 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | criteria provided, single submitter | clinical testing | ||
3billion | RCV001638191 | SCV002012026 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |