ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1039-4G>A

gnomAD frequency: 0.00005  dbSNP: rs575570315
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117456 SCV002402239 likely benign not provided 2024-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494250 SCV002799241 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 2021-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734444 SCV005363841 likely benign GNAS-related disorder 2024-09-03 no assertion criteria provided 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.