ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.576G>T (p.Pro192=)

gnomAD frequency: 0.00005  dbSNP: rs558915293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002506753 SCV002811198 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 2021-07-23 criteria provided, single submitter clinical testing
Invitae RCV001730361 SCV004624869 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001730362 SCV001978921 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730361 SCV001980587 likely benign not provided no assertion criteria provided clinical testing

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