ClinVar Miner

Submissions for variant NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)

gnomAD frequency: 0.00253  dbSNP: rs147791304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175086 SCV000226514 benign not specified 2015-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175086 SCV000312727 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000473128 SCV000560647 likely benign Primary ciliary dyskinesia 6 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390428 SCV002702461 benign Primary ciliary dyskinesia 2016-05-20 criteria provided, single submitter clinical testing This alteration is classified as 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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