ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=)

gnomAD frequency: 0.00527  dbSNP: rs149185175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193621 SCV000247704 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV000542882 SCV000653825 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460967 SCV000847959 benign Inborn genetic diseases 2016-01-25 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.
GeneDx RCV000542882 SCV001825566 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing

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