ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.464-2A>T (rs587776708)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989204 SCV001139433 benign Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000009541 SCV000029759 pathogenic Benign hereditary chorea 2003-08-01 no assertion criteria provided literature only

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