ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1365A>G (p.Ser455=)

gnomAD frequency: 0.00043  dbSNP: rs376496298
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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 RCV000253198 SCV000311853 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863066 SCV001003661 likely benign Primary ciliary dyskinesia 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000863066 SCV005578496 likely benign Primary ciliary dyskinesia 2024-09-04 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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