ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1098G>A (p.Lys366=)

gnomAD frequency: 0.00002  dbSNP: rs57901307
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500477 SCV000595625 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000057231 SCV000701838 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178173 SCV001342549 likely benign Cardiomyopathy 2018-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000057231 SCV001473506 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001437348 SCV001640201 likely benign Charcot-Marie-Tooth disease type 2 2023-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000057231 SCV001746872 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453371 SCV002737584 likely benign Cardiovascular phenotype 2021-07-03 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 RCV003996496 SCV004818455 likely benign Primary dilated cardiomyopathy 2023-11-02 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057231 SCV000088344 not provided not provided no assertion provided not provided

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