ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1038+17_1038+20del

gnomAD frequency: 0.00013  dbSNP: rs773644530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002127360 SCV002403303 benign not provided 2023-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480959 SCV002799941 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 2021-10-02 criteria provided, single submitter clinical testing

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