ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)

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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 RCV002443447 SCV002683007 uncertain significance Primary ciliary dyskinesia 2022-03-03 criteria provided, single submitter clinical testing The p.R3150W variant (also known as c.9448C>T), located in coding exon 57 of the DNAH11 gene, results from a C to T substitution at nucleotide position 9448. The arginine at codon 3150 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002443447 SCV003454448 benign Primary ciliary dyskinesia 2024-03-30 criteria provided, single submitter clinical testing

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