ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1428C>G (p.Ala476=)

dbSNP: rs559714658
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002501927 SCV002807730 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 2021-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572855 SCV004150706 benign not provided 2022-07-01 criteria provided, single submitter clinical testing GNAS: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572855 SCV001797864 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001572855 SCV001925300 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572855 SCV001974017 likely benign not provided no assertion criteria provided clinical testing

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