ClinVar Miner

Submissions for variant NM_139285.4(GAS2L2):c.1340C>G (p.Thr447Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466962 SCV002761955 uncertain significance Ciliary dyskinesia, primary, 41 2022-08-08 criteria provided, single submitter clinical testing

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