ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.807C>T (p.Phe269=) (rs139407567)

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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 RCV000571925 SCV000672424 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneReviews RCV000034108 SCV000058038 pathologic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000338604 SCV000373583 likely benign Familial Isolated Pituitary Adenomas 2016-06-14 criteria provided, single submitter clinical testing

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