ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)

dbSNP: rs1569032751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761303 SCV000891280 likely pathogenic McCune-Albright syndrome 2017-04-27 criteria provided, single submitter clinical testing
OMIM RCV002273823 SCV000037598 pathogenic Pseudohypoparathyroidism type 1B 2001-01-05 no assertion criteria provided literature only

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