ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.693-9T>C

gnomAD frequency: 0.00515  dbSNP: rs72655973
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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 RCV000203949 SCV000262510 benign Primary ciliary dyskinesia 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000244070 SCV000307563 benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503820 SCV002813734 likely benign Primary ciliary dyskinesia 7 2022-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002503820 SCV003799466 benign Primary ciliary dyskinesia 7 2024-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000203949 SCV004848990 likely benign Primary ciliary dyskinesia 2016-01-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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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