ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.660-15C>A

gnomAD frequency: 0.00001  dbSNP: rs755766644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002116353 SCV002447919 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500196 SCV002811318 likely benign 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 2022-03-25 criteria provided, single submitter clinical testing

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