ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.702G>C (p.Trp234Cys)

dbSNP: rs2091303526
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics of Obesity Study, University of Cambridge RCV001732167 SCV001573816 pathogenic Pseudohypoparathyroidism type I A 2020-06-01 criteria provided, single submitter research
Revvity Omics, Revvity RCV003130513 SCV003816965 uncertain significance not provided 2020-04-04 criteria provided, single submitter clinical testing

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