ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.357G>A (p.Leu119=)

gnomAD frequency: 0.00006  dbSNP: rs368741499
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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 RCV002506737 SCV002804616 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 2022-04-06 criteria provided, single submitter clinical testing
Invitae RCV001700611 SCV002950270 benign not provided 2023-10-08 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700611 SCV001923664 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700611 SCV001969910 likely benign not provided no assertion criteria provided clinical testing

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