ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser)

gnomAD frequency: 0.00061  dbSNP: rs140532942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544400 SCV000653828 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461327 SCV000851462 benign Inborn genetic diseases 2018-11-29 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 RCV000544400 SCV001758311 benign not provided 2020-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962583 SCV004784800 likely benign NEXMIF-related condition 2024-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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