ClinVar Miner

Submissions for variant NM_000367.4(TPMT):c.420-4G>A (rs56019966)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326278 SCV000461793 uncertain significance Thiopurine methyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Neurology IV Unit; Fondazione Istituto Neurologico C. Besta RCV000133448 SCV000188489 drug response Azathioprine response 2010-12-21 no assertion criteria provided research The variant is clinically significant because of its association with azathioprine intolerance and a moderate TPMT activity, evidenced by reduced activity of TPMT tested on red blood cells by ELISA.

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