ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=)

gnomAD frequency: 0.00004  dbSNP: rs749479992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504243 SCV000595355 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557641 SCV000653809 likely benign not provided 2024-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000504243 SCV002754854 likely benign not specified 2017-10-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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