ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1699-7T>C

gnomAD frequency: 0.00003  dbSNP: rs771074100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180930 SCV001345983 likely benign Cardiomyopathy 2019-04-26 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262512 SCV001440426 uncertain significance Dilated cardiomyopathy 1A 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001469235 SCV001673311 likely benign Charcot-Marie-Tooth disease type 2 2023-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264213 SCV002544322 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing LMNA: BP4
Clinical Genomics Program, Stanford Medicine RCV001262512 SCV004803170 uncertain significance Dilated cardiomyopathy 1A 2021-05-13 criteria provided, single submitter clinical testing The c.1699-7T>C variant in the LMNA gene has not been previously reported in association with disease.This variant has been identified in 2/104,324 European chromosomes by the Genome Aggregation Database(http://gnomad.broadinstitute.org/).The c.1699-7T>C variant occurs in the 3’ splice site and computational tools do not predict an impact tosplicing. However, the accuracy of these computational tools is limited.These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the c.1699-7T>C variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; BP4]

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