ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) (rs137852693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262792 SCV001440793 likely pathogenic Benign hereditary chorea 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001267148 SCV001445329 pathogenic Inborn genetic diseases 2018-04-10 criteria provided, single submitter clinical testing
OMIM RCV000009542 SCV000029760 pathogenic Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2005-06-14 no assertion criteria provided literature only

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