ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)

gnomAD frequency: 0.00001  dbSNP: rs545264816
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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 RCV000398514 SCV000468232 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398514 SCV003448678 likely benign Primary ciliary dyskinesia 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696019 SCV005188471 uncertain significance not provided criteria provided, single submitter not provided

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