ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.530+11G>A

gnomAD frequency: 0.00017  dbSNP: rs74474807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002116615 SCV002446491 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494397 SCV002802447 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 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003053466 SCV003532811 likely benign Inborn genetic diseases 2021-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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