ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.936T>C (p.Phe312=)

gnomAD frequency: 0.00004  dbSNP: rs764458531
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001699761 SCV002438893 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496023 SCV002800269 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 2021-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536257 SCV004715232 likely benign GNAS-related disorder 2021-07-21 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).
Clinical Genetics, Academic Medical Center RCV001699761 SCV001920778 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699761 SCV001966601 likely benign not provided no assertion criteria provided clinical testing

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