ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu) (rs137854539)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000017323 SCV000926990 likely pathogenic Pseudohypoparathyroidism 2019-01-29 criteria provided, single submitter clinical testing
OMIM RCV000017322 SCV000037594 pathogenic Pseudopseudohypoparathyroidism 2001-10-01 no assertion criteria provided literature only
OMIM RCV000017323 SCV000037595 pathogenic Pseudohypoparathyroidism 2001-10-01 no assertion criteria provided literature only

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