ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8098A>G (p.Thr2700Ala)

gnomAD frequency: 0.00001  dbSNP: rs376421903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629451 SCV000750393 likely benign Primary ciliary dyskinesia 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243222 SCV003944298 uncertain significance Inborn genetic diseases 2023-03-15 criteria provided, single submitter clinical testing The c.8098A>G (p.T2700A) alteration is located in exon 49 (coding exon 49) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 8098, causing the threonine (T) at amino acid position 2700 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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