ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.432C>T (p.Pro144=)

dbSNP: rs11554266
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882967 SCV001026236 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000882967 SCV001941407 benign not provided 2021-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498564 SCV002805374 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 2021-11-08 criteria provided, single submitter clinical testing
ITMI RCV000121157 SCV000085325 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000882967 SCV001797427 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121157 SCV001930546 benign not specified no assertion criteria provided clinical testing

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