ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)

gnomAD frequency: 0.00010  dbSNP: rs200628085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243334 SCV000307586 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461622 SCV000551738 benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000461622 SCV005109633 uncertain significance Primary ciliary dyskinesia 2024-05-20 criteria provided, single submitter clinical testing The c.8299G>A (p.A2767T) alteration is located in exon 50 (coding exon 50) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 8299, causing the alanine (A) at amino acid position 2767 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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