ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003237308 SCV003935970 pathogenic Brain-lung-thyroid syndrome 2020-02-25 criteria provided, single submitter clinical testing

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