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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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
CeGaT Center for Human Genetics Tuebingen RCV000962815 SCV005093532 benign not provided 2024-07-01 criteria provided, single submitter clinical testing GNAS: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000962815 SCV005308103 benign not provided criteria provided, single submitter not provided

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