ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)

gnomAD frequency: 0.00005  dbSNP: rs780579730
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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 RCV000270231 SCV000468241 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000270231 SCV000835083 benign Primary ciliary dyskinesia 2023-10-30 criteria provided, single submitter clinical testing

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