ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly)

dbSNP: rs1751407075
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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 RCV001280305 SCV002697616 uncertain significance Primary ciliary dyskinesia 2021-12-02 criteria provided, single submitter clinical testing The p.E3434G variant (also known as c.10301A>G), located in coding exon 61 of the DNAH5 gene, results from an A to G substitution at nucleotide position 10301. The glutamic acid at codon 3434 is replaced by glycine, 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.
Natera, Inc. RCV001280305 SCV001467475 uncertain significance Primary ciliary dyskinesia 2020-08-14 no assertion criteria provided clinical testing

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