ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu)

gnomAD frequency: 0.00009  dbSNP: rs372918576
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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 RCV001320093 SCV001510864 benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001320093 SCV002753931 uncertain significance Primary ciliary dyskinesia 2024-05-14 criteria provided, single submitter clinical testing The c.11260C>G (p.Q3754E) alteration is located in exon 69 (coding exon 69) of the DNAH11 gene. This alteration results from a C to G substitution at nucleotide position 11260, causing the glutamine (Q) at amino acid position 3754 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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