ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)

gnomAD frequency: 0.00001  dbSNP: rs372633683
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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 RCV000290418 SCV000468164 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000290418 SCV004526033 benign Primary ciliary dyskinesia 2023-08-11 criteria provided, single submitter clinical testing

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