ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1320+73T>C

gnomAD frequency: 0.43433  dbSNP: rs13179761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527596 SCV001738706 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001647358 SCV001859304 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647358 SCV005306092 benign not provided criteria provided, single submitter not provided

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