ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1047G>A (p.Arg349=)

gnomAD frequency: 0.00002  dbSNP: rs147015659
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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) RCV000594543 SCV000708454 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001406347 SCV001608298 likely benign Charcot-Marie-Tooth disease type 2 2024-09-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524473 SCV001734334 likely benign Cardiomyopathy 2020-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404613 SCV002705220 likely benign Cardiovascular phenotype 2019-01-07 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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