ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly)

gnomAD frequency: 0.00006  dbSNP: rs928335497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629324 SCV000750259 benign Primary ciliary dyskinesia 2024-10-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734391 SCV000862530 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing
New York Genome Center RCV001542426 SCV001761128 uncertain significance Primary ciliary dyskinesia 7 2020-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629324 SCV004858247 uncertain significance Primary ciliary dyskinesia 2023-11-03 criteria provided, single submitter clinical testing The c.10631A>G (p.E3544G) alteration is located in exon 65 (coding exon 65) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 10631, causing the glutamic acid (E) at amino acid position 3544 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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