ClinVar Miner

Submissions for variant NM_080425.3(GNAS):c.1455C>A (p.Ala485=) (rs55890501)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477956 SCV000536888 uncertain significance Cushing's syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia 2016-02-09 no assertion criteria provided research

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