ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) (rs193922097)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029289 SCV000051935 pathogenic Adrenoleukodystrophy 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723567 SCV000109794 pathogenic not provided 2014-02-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723567 SCV001249769 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing

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