ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2441A>G (p.Glu814Gly)

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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 RCV003539118 SCV004285559 benign Primary ciliary dyskinesia 2023-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003539118 SCV004858277 uncertain significance Primary ciliary dyskinesia 2023-11-13 criteria provided, single submitter clinical testing The c.2441A>G (p.E814G) alteration is located in exon 14 (coding exon 14) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 2441, causing the glutamic acid (E) at amino acid position 814 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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