Submissions for variant NM_000516.7(GNAS):c.384G>A (p.Val128=)

gnomAD frequency: 0.00609  dbSNP: rs3730166

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000903827	SCV001048311	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001796814	SCV002067866	benign	not specified	2021-06-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002495465	SCV002802130	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	2021-11-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541903	SCV004796127	benign	GNAS-related disorder	2020-11-17	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000903827	SCV002036588	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796814	SCV002037950	benign	not specified		no assertion criteria provided	clinical testing