ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.393C>T (p.Ile131=) (rs7121)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000178784 SCV000230939 benign not specified 2014-10-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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).
Invitae RCV001519408 SCV001728274 benign not provided 2020-12-05 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)
Nilou-Genome Lab RCV001701698 SCV001933864 benign Progressive osseous heteroplasia 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701629 SCV001933865 benign Pseudohypoparathyroidism type I A 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701780 SCV001933866 benign Pseudohypoparathyroidism type 1B 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701542 SCV001933867 benign Pseudohypoparathyroidism type 1C 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701628 SCV001933868 benign Pseudopseudohypoparathyroidism 2021-08-10 criteria provided, single submitter clinical testing
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

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