ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)

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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 RCV002417215 SCV002718674 uncertain significance Primary ciliary dyskinesia 2020-01-17 criteria provided, single submitter clinical testing The p.L3583P variant (also known as c.10748T>C), located in coding exon 66 of the DNAH11 gene, results from a T to C substitution at nucleotide position 10748. The leucine at codon 3583 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002417215 SCV004368863 likely benign Primary ciliary dyskinesia 2023-10-20 criteria provided, single submitter clinical testing

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