ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.145G>A (p.Val49Met) (rs1063385)

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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 RCV000563699 SCV000672437 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence
GeneReviews RCV000034063 SCV000057993 unknown Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000321912 SCV000373574 likely benign Familial Isolated Pituitary Adenomas 2016-06-14 criteria provided, single submitter clinical testing

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