Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002195461 | SCV002352427 | likely benign | not provided | 2022-10-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494102 | SCV002804323 | 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 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004531299 | SCV004709547 | likely benign | GNAS-related disorder | 2021-03-16 | 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). |