ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1039-4G>A

gnomAD frequency: 0.00005  dbSNP: rs575570315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002117456 SCV002402239 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494250 SCV002799241 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 2021-12-03 criteria provided, single submitter clinical testing

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