ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.12444-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV003149166 SCV003836565 likely pathogenic Primary ciliary dyskinesia 5 2023-03-07 criteria provided, single submitter clinical testing PVS1, PM2
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub RCV003149166 SCV004704575 likely pathogenic Primary ciliary dyskinesia 5 2024-03-06 criteria provided, single submitter clinical testing

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