ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.728del (p.Thr243fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017281 SCV000037553 pathogenic Pseudohypoparathyroidism 2008-07-15 no assertion criteria provided literature only
OMIM RCV000017282 SCV000037554 pathogenic Pseudopseudohypoparathyroidism 2008-07-15 no assertion criteria provided literature only
OMIM RCV000017283 SCV000037555 pathogenic Progressive osseous heteroplasia 2008-07-15 no assertion criteria provided literature only

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