ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000560928 SCV000664980 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence
GeneReviews RCV000034083 SCV000058013 unknown Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000260680 SCV000373570 likely benign Familial Isolated Pituitary Adenomas 2016-06-14 criteria provided, single submitter clinical testing

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