ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.258-7A>C

gnomAD frequency: 0.00001  dbSNP: rs1183884518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002132772 SCV002433112 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500185 SCV002808141 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 2021-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531455 SCV004755891 likely benign GNAS-related disorder 2024-02-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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