ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.213-11C>T

gnomAD frequency: 0.00013  dbSNP: rs369370389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002128938 SCV002453962 likely benign not provided 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500264 SCV002798175 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 2022-04-21 criteria provided, single submitter clinical testing

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