ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.1177G>A (p.Glu393Lys) (rs397514456)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174485 SCV000225793 pathogenic not provided 2015-03-10 criteria provided, single submitter clinical testing
OMIM RCV000022599 SCV000043888 pathogenic Pseudohypoparathyroidism type 1C 2011-06-01 no assertion criteria provided literature only

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