Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000923793 | SCV001069287 | benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438591 | SCV004154590 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | ADA: BP4, BP7 |
Prevention |
RCV003903032 | SCV004725676 | likely benign | ADA-related condition | 2019-03-21 | 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). |
Natera, |
RCV000923793 | SCV001455699 | likely benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2020-04-29 | no assertion criteria provided | clinical testing |