ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.286A>G (p.Lys96Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University RCV004780732 SCV005043143 likely pathogenic Pseudohypoparathyroidism type I A criteria provided, single submitter research

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