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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132772 SCV002433112 likely benign not provided 2024-11-22 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
Breakthrough Genomics, Breakthrough Genomics RCV002132772 SCV005210012 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004531455 SCV004755891 likely benign GNAS-related disorder 2024-02-16 no assertion criteria provided 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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