ClinVar Miner

Submissions for variant NM_016616.5(NME8):c.271-3T>C

gnomAD frequency: 0.00078  dbSNP: rs191137504
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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) RCV000179950 SCV000232271 benign not specified 2015-06-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000179950 SCV000312739 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000459051 SCV000560648 benign Primary ciliary dyskinesia 6 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426860 SCV002741411 benign Primary ciliary dyskinesia 2018-08-17 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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