ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)

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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 RCV002358179 SCV002655194 uncertain significance Primary ciliary dyskinesia 2022-03-30 criteria provided, single submitter clinical testing The p.A2011V variant (also known as c.6032C>T), located in coding exon 35 of the DNAH11 gene, results from a C to T substitution at nucleotide position 6032. The alanine at codon 2011 is replaced by valine, an amino acid with similar 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 RCV002358179 SCV004272399 benign Primary ciliary dyskinesia 2024-01-14 criteria provided, single submitter clinical testing

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