Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887705 | SCV001031280 | likely benign | not provided | 2019-02-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507573 | SCV002807930 | likely benign | McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A | 2021-10-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530949 | SCV004749450 | likely benign | GNAS-related disorder | 2020-08-14 | 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). |