ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)

dbSNP: rs775015070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090526 SCV001246130 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236866 SCV003935964 likely pathogenic Brain-lung-thyroid syndrome 2020-03-09 criteria provided, single submitter clinical testing

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