Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552576 | SCV000632851 | benign | Birt-Hogg-Dube syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002231368 | SCV002511967 | benign | not specified | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497103 | SCV002810224 | benign | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942770 | SCV004761646 | benign | FLCN-related condition | 2019-11-12 | 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). |