Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585533 | SCV000693108 | uncertain significance | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001331350 | SCV001523375 | uncertain significance | Aminoacylase 1 deficiency | 2019-08-27 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000585533 | SCV001772704 | likely pathogenic | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on protein expression and enzymatic activity (Sommer et al., 2011); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29653693, 21414403) |