ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10879G>A (p.Asp3627Asn)

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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 RCV003653966 SCV004469026 benign Primary ciliary dyskinesia 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003653966 SCV004858252 uncertain significance Primary ciliary dyskinesia 2023-11-28 criteria provided, single submitter clinical testing The c.10879G>A (p.D3627N) alteration is located in exon 66 (coding exon 66) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 10879, causing the aspartic acid (D) at amino acid position 3627 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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