Submissions for variant NM_000516.7(GNAS):c.393C>T (p.Ile131=)

gnomAD frequency: 0.56988  dbSNP: rs7121

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178784	SCV000230939	benign	not specified	2014-10-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000178784	SCV000711852	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ile774Ile in exon 5 of GNAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 81.39% (1076/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs7121).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519408	SCV001728274	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519408	SCV001896379	benign	not provided	2018-10-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10406816, 17388805)
Genome-Nilou Lab	RCV001701698	SCV001933864	benign	Progressive osseous heteroplasia	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701629	SCV001933865	benign	Pseudohypoparathyroidism type I A	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701780	SCV001933866	benign	Pseudohypoparathyroidism type 1B	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701542	SCV001933867	benign	Pseudohypoparathyroidism type 1C	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701628	SCV001933868	benign	Pseudopseudohypoparathyroidism	2021-08-10	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000178784	SCV004243007	benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519408	SCV005308117	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000178784	SCV001740708	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000178784	SCV001922544	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178784	SCV001927966	benign	not specified		no assertion criteria provided	clinical testing