ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6683+16_6683+18del

gnomAD frequency: 0.00004  dbSNP: rs750498878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369909 SCV000468137 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000369909 SCV004267082 likely benign Primary ciliary dyskinesia 2023-12-13 criteria provided, single submitter clinical testing

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