ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11570+124G>C (rs543104462)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000128825 SCV000793685 likely benign Ciliary dyskinesia, primary, 3 2017-08-22 criteria provided, single submitter clinical testing
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) RCV000128825 SCV000172485 uncertain significance Ciliary dyskinesia, primary, 3 no assertion criteria provided research Primary Ciliary Dyskinesia

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