ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1711-4A>T

gnomAD frequency: 0.00006  dbSNP: rs372207653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002109330 SCV002432110 likely benign Primary ciliary dyskinesia 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002109330 SCV002713536 uncertain significance Primary ciliary dyskinesia 2021-05-18 criteria provided, single submitter clinical testing The c.1711-4A>T intronic variant results from an A to T substitution 4 nucleotides upstream from coding exon 10 in the DNAH11 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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