ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1221C>G (p.Thr407=)

gnomAD frequency: 0.00433  dbSNP: rs200430001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000962815 SCV001109919 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489367 SCV002799495 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 2021-10-28 criteria provided, single submitter clinical testing

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