ClinVar Miner

Submissions for variant NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003484550 SCV004229107 likely pathogenic Primary ciliary dyskinesia 10 2023-06-15 criteria provided, single submitter clinical testing

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