ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.47G>A (p.Arg16His) (rs145047094)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000034083 SCV000373570 likely benign Somatotroph adenoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000560928 SCV000664980 likely benign Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Other data supporting benign classification
Invitae RCV000893230 SCV001037150 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001554284 SCV001775518 likely benign Pituitary adenoma, familial isolated 2021-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000893230 SCV001827081 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 19366855, 27267386, 17609395, 28255869, 29848728, 19474519, 29036195, 26963951, 26792934, 22319033, 17242703, 21348957, 27253664, 29074612, 21753072, 19794292, 25184284, 25614825, 29632148, 20457215, 17360484, 18484068, 17244780, 22915287, 26815903, 20506337, 30941100)
GeneReviews RCV000034083 SCV000058013 unknown Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Uncertain significance.

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