ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp)

gnomAD frequency: 0.00003  dbSNP: rs764968620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732081 SCV000859986 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855672 SCV002282523 likely benign Primary ciliary dyskinesia 2023-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001855672 SCV003579854 uncertain significance Primary ciliary dyskinesia 2021-10-20 criteria provided, single submitter clinical testing The c.1671A>C (p.E557D) alteration is located in exon 9 (coding exon 9) of the DNAH11 gene. This alteration results from a A to C substitution at nucleotide position 1671, causing the glutamic acid (E) at amino acid position 557 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Daryl Scott Lab, Baylor College of Medicine RCV003221305 SCV003915702 uncertain significance DNAH11-related disorder 2023-04-11 criteria provided, single submitter clinical testing

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