ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11882A>G (p.Asn3961Ser)

gnomAD frequency: 0.00001  dbSNP: rs186794216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629455 SCV000750398 benign Primary ciliary dyskinesia 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533170 SCV003757085 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.11882A>G (p.N3961S) alteration is located in exon 73 (coding exon 73) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 11882, causing the asparagine (N) at amino acid position 3961 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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