ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)

dbSNP: rs778121381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420663 SCV001622995 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476746 SCV002780366 uncertain significance McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 2021-11-11 criteria provided, single submitter clinical testing

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