ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)

gnomAD frequency: 0.00001  dbSNP: rs764201218
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001280311 SCV002391041 likely benign Primary ciliary dyskinesia 2023-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001280311 SCV002658214 likely benign Primary ciliary dyskinesia 2022-03-25 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.
Fulgent Genetics, Fulgent Genetics RCV002486071 SCV002797303 likely benign Primary ciliary dyskinesia 3 2022-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280311 SCV001467482 uncertain significance Primary ciliary dyskinesia 2020-09-04 no assertion criteria provided clinical testing

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