ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1529-17TTG[2]

dbSNP: rs369485504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247968 SCV000316648 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058457 SCV002401881 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002058457 SCV004848985 likely benign Primary ciliary dyskinesia 2015-08-07 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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