Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000893482 | SCV001037417 | likely benign | Candidiasis, familial, 8 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000893482 | SCV001527474 | uncertain significance | Candidiasis, familial, 8 | 2018-04-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003957997 | SCV004775479 | benign | TRAF3IP2-related condition | 2019-11-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |