ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)

gnomAD frequency: 0.00008  dbSNP: rs376517306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892313 SCV001036176 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501470 SCV002805861 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 2021-08-02 criteria provided, single submitter clinical testing

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