ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10967G>A (p.Arg3656His)

gnomAD frequency: 0.00002  dbSNP: rs765797284
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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 RCV001989211 SCV002281863 benign Primary ciliary dyskinesia 2024-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001989211 SCV005577700 uncertain significance Primary ciliary dyskinesia 2024-06-26 criteria provided, single submitter clinical testing The c.10967G>A (p.R3656H) alteration is located in exon 67 (coding exon 67) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 10967, causing the arginine (R) at amino acid position 3656 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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