ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.568_571del (p.Asp190fs) (rs587776829)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678707 SCV000804871 pathogenic not specified 2017-12-20 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000017300 SCV000992358 pathogenic Pseudohypoparathyroidism 2019-04-28 criteria provided, single submitter clinical testing
OMIM RCV000017300 SCV000037572 pathogenic Pseudohypoparathyroidism 2008-07-15 no assertion criteria provided literature only
OMIM RCV000017301 SCV000037573 pathogenic Progressive osseous heteroplasia 2008-07-15 no assertion criteria provided literature only
OMIM RCV000017302 SCV000037574 pathogenic Pseudopseudohypoparathyroidism 2008-07-15 no assertion criteria provided literature only
GeneReviews RCV000017301 SCV000611857 pathogenic Progressive osseous heteroplasia 2017-01-25 no assertion criteria provided literature only

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