ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.827C>T (p.Ala276Val) (rs61741147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573085 SCV000672433 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Fulgent Genetics,Fulgent Genetics RCV000765006 SCV000896189 uncertain significance Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma 2018-10-31 criteria provided, single submitter clinical testing

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