ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9884G>A (p.Gly3295Asp)

gnomAD frequency: 0.00003  dbSNP: rs554507939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543160 SCV000624189 likely benign Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527664 SCV003630397 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.9884G>A (p.G3295D) alteration is located in exon 60 (coding exon 60) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 9884, causing the glycine (G) at amino acid position 3295 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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