Submissions for variant NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)

dbSNP: rs61749696

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000974148	SCV001121962	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000974148	SCV001773253	likely benign	not provided	2019-02-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492425	SCV002802131	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	2021-12-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000974148	SCV004150705	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	GNAS: BP4, BS1
ITMI	RCV000121166	SCV000085334	not provided	not specified	2013-09-19	no assertion provided	reference population
Clinical Genetics, Academic Medical Center	RCV000974148	SCV001921084	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000974148	SCV001965970	likely benign	not provided		no assertion criteria provided	clinical testing