ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly)

gnomAD frequency: 0.00002  dbSNP: rs185803317
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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 RCV001054553 SCV001218873 benign Primary ciliary dyskinesia 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001054553 SCV002750508 uncertain significance Primary ciliary dyskinesia 2022-04-06 criteria provided, single submitter clinical testing The c.2887A>G (p.R963G) alteration is located in exon 15 (coding exon 15) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 2887, causing the arginine (R) at amino acid position 963 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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