ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003172710 SCV003867174 uncertain significance Primary ciliary dyskinesia 2023-01-05 criteria provided, single submitter clinical testing The p.Q704L variant (also known as c.2111A>T), located in coding exon 12 of the DNAH11 gene, results from an A to T substitution at nucleotide position 2111. The glutamine at codon 704 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003172710 SCV004662123 benign Primary ciliary dyskinesia 2023-08-16 criteria provided, single submitter clinical testing

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