ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7441-19A>G

gnomAD frequency: 0.00707  dbSNP: rs10247099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254459 SCV000307571 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058024 SCV002413624 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002058024 SCV004848991 uncertain significance Primary ciliary dyskinesia 2015-08-12 criteria provided, single submitter clinical testing The c.7441-19A>G intronic alteration consists of a A to G substitution 19 nucleotides before coding exon 46 in the DNAH11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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