ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)

gnomAD frequency: 0.00615  dbSNP: rs73682656
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228531 SCV000287008 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246818 SCV000307521 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000228531 SCV000468099 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000228531 SCV002637069 benign Primary ciliary dyskinesia 2017-05-31 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003615828 SCV004562387 likely benign Primary ciliary dyskinesia 7 2023-08-21 criteria provided, single submitter clinical testing

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