ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8699G>A (p.Arg2900Gln)

gnomAD frequency: 0.00004  dbSNP: rs534013804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041208 SCV001204810 benign Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001041208 SCV003737757 uncertain significance Primary ciliary dyskinesia 2021-08-02 criteria provided, single submitter clinical testing The c.8699G>A (p.R2900Q) alteration is located in exon 53 (coding exon 53) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 8699, causing the arginine (R) at amino acid position 2900 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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