ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val)

gnomAD frequency: 0.00002  dbSNP: rs200664169
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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 RCV001247813 SCV001421258 benign Primary ciliary dyskinesia 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001247813 SCV002632942 uncertain significance Primary ciliary dyskinesia 2022-07-11 criteria provided, single submitter clinical testing The p.A3906V variant (also known as c.11717C>T), located in coding exon 72 of the DNAH11 gene, results from a C to T substitution at nucleotide position 11717. The alanine at codon 3906 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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