ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2052+22C>A

gnomAD frequency: 0.00621  dbSNP: rs150480592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246496 SCV000307724 likely benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527593 SCV001738701 likely benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing

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