ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1131C>T (p.Asn377=)

gnomAD frequency: 0.00003  dbSNP: rs140075370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000925048 SCV001070577 likely benign not provided 2022-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000925048 SCV001371040 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495552 SCV002799041 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 2022-01-17 criteria provided, single submitter clinical testing

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