ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg)

gnomAD frequency: 0.00005  dbSNP: rs371437266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307464 SCV001496877 benign Primary ciliary dyskinesia 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001773615 SCV001992984 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001307464 SCV002729879 uncertain significance Primary ciliary dyskinesia 2022-07-26 criteria provided, single submitter clinical testing The c.10796A>G (p.Q3599R) alteration is located in exon 66 (coding exon 66) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 10796, causing the glutamine (Q) at amino acid position 3599 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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