ClinVar Miner

Submissions for variant NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=)

gnomAD frequency: 0.14212  dbSNP: rs73036225
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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 RCV000244464 SCV000313013 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514974 SCV001722946 benign Primary ciliary dyskinesia 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001689883 SCV001915829 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001514974 SCV002683396 benign Primary ciliary dyskinesia 2016-07-07 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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