ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.484A>G (p.Met162Val)

gnomAD frequency: 0.00192  dbSNP: rs138731520
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000890289 SCV001034022 benign not provided 2023-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492426 SCV002797364 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 2021-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890289 SCV003916309 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing GNAS: BS2
ITMI RCV000121173 SCV000085341 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000890289 SCV001740062 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000890289 SCV001800255 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000890289 SCV001920346 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000890289 SCV001966037 likely benign not provided no assertion criteria provided clinical testing

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