ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)

gnomAD frequency: 0.00002  dbSNP: rs373930042
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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 RCV000277598 SCV000468138 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000277598 SCV004336125 benign Primary ciliary dyskinesia 2023-12-23 criteria provided, single submitter clinical testing

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