ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990730 SCV004807634 likely pathogenic Pseudohypoparathyroidism type 1B 2024-03-29 criteria provided, single submitter clinical testing

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