ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)

gnomAD frequency: 0.00220  dbSNP: rs145239537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247417 SCV000307578 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393969 SCV000468152 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000393969 SCV000624169 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000393969 SCV002672200 benign Primary ciliary dyskinesia 2017-06-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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