ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1320+269T>A

gnomAD frequency: 0.43546  dbSNP: rs12654693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527595 SCV001738705 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001658243 SCV001881424 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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