ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) (rs587776709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000009544 SCV000803724 pathogenic Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2018-04-24 criteria provided, single submitter clinical testing
OMIM RCV000009544 SCV000029762 pathogenic Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2002-02-01 no assertion criteria provided literature only

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