ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp)

gnomAD frequency: 0.00021  dbSNP: rs183489539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312768 SCV000468093 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000312768 SCV000562006 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV002225606 SCV002504445 likely benign not provided 2019-01-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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