ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371617 SCV002685427 uncertain significance Primary ciliary dyskinesia 2021-11-29 criteria provided, single submitter clinical testing The p.T3109S variant (also known as c.9325A>T), located in coding exon 56 of the DNAH11 gene, results from an A to T substitution at nucleotide position 9325. The threonine at codon 3109 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002371617 SCV002938593 benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing

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