ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)

dbSNP: rs1057519223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004818064 SCV000992793 likely pathogenic Benign hereditary chorea; Brain-lung-thyroid syndrome 2017-12-31 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236851 SCV003935982 likely pathogenic Brain-lung-thyroid syndrome 2020-01-24 criteria provided, single submitter clinical testing

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