ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys)

gnomAD frequency: 0.00001  dbSNP: rs772016314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596799 SCV000707581 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532576 SCV003461988 benign Primary ciliary dyskinesia 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532576 SCV005991038 uncertain significance Primary ciliary dyskinesia 2025-02-18 criteria provided, single submitter clinical testing The c.10041T>A (p.N3347K) alteration is located in exon 62 (coding exon 62) of the DNAH11 gene. This alteration results from a T to A substitution at nucleotide position 10041, causing the asparagine (N) at amino acid position 3347 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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