ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10669A>G (p.Arg3557Gly)

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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 RCV003069106 SCV003466089 benign Primary ciliary dyskinesia 2024-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003069106 SCV004084670 uncertain significance Primary ciliary dyskinesia 2023-07-17 criteria provided, single submitter clinical testing The c.10669A>G (p.R3557G) alteration is located in exon 65 (coding exon 65) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 10669, causing the arginine (R) at amino acid position 3557 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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