Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335962 | SCV001529228 | likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
3billion | RCV001775167 | SCV002012334 | likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2021-10-02 | criteria provided, single submitter | clinical testing | It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.937, 3Cnet: 0.991, PP3). Patient's phenotype is considered compatible with Multiple congenital anomalies-hypotonia-seizures syndrome 2 (3billion dataset, PP4).Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |