ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.870G>A (p.Glu290=)

gnomAD frequency: 0.00002  dbSNP: rs747275587
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553950 SCV000657823 likely benign Charcot-Marie-Tooth disease type 2 2024-12-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597468 SCV000704131 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191882 SCV001359804 likely benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000597468 SCV001890608 benign not provided 2015-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448795 SCV002682275 likely benign Cardiovascular phenotype 2019-07-11 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.
All of Us Research Program, National Institutes of Health RCV003999471 SCV004844718 likely benign Primary dilated cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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