ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5271+72C>T

gnomAD frequency: 0.18085  dbSNP: rs16902837
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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 RCV001527538 SCV001738614 likely benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001692444 SCV001912587 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692444 SCV005259636 likely benign not provided criteria provided, single submitter not provided

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