ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10090C>T (p.Arg3364Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003534997 SCV003949545 uncertain significance Primary ciliary dyskinesia 2023-05-24 criteria provided, single submitter clinical testing The c.10090C>T (p.R3364W) alteration is located in exon 62 (coding exon 62) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 10090, causing the arginine (R) at amino acid position 3364 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534997 SCV004259994 benign Primary ciliary dyskinesia 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV004801335 SCV005421873 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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