ClinVar Miner

Submissions for variant NM_031427.4(DNAL1):c.*6161_*6162insCA

gnomAD frequency: 0.00025  dbSNP: rs886050720
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388788 SCV000388351 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing

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