ClinVar Miner

Submissions for variant NM_153614.4(DNAJB13):c.493-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989904 SCV004805961 likely pathogenic Primary ciliary dyskinesia 34 2024-03-25 criteria provided, single submitter clinical testing

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