ClinVar Miner

Submissions for variant NM_016616.4(NME8):c.271-27C>T

gnomAD frequency: 0.01739  dbSNP: rs117149381
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003413 SCV000290234 benign Primary ciliary dyskinesia 6 2023-08-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242056 SCV000312738 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002426482 SCV002741003 benign Primary ciliary dyskinesia 2019-09-23 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.
OMIM RCV000003413 SCV000023571 pathogenic Primary ciliary dyskinesia 6 2007-02-27 no assertion criteria provided literature only
GeneReviews RCV000003413 SCV000086970 not provided Primary ciliary dyskinesia 6 no assertion provided literature only

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