ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1395A>C (p.Pro465=)

gnomAD frequency: 0.00027  dbSNP: rs56213454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568915 SCV001792873 likely benign not provided 2019-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501916 SCV002809673 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 2022-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542017 SCV004798935 likely benign GNAS-related disorder 2022-12-20 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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