ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3357A>G (p.Leu1119=)

gnomAD frequency: 0.00001  dbSNP: rs780565363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001441805 SCV001644742 likely benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001441805 SCV002607169 likely benign Primary ciliary dyskinesia 2022-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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