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

gnomAD frequency: 0.00003  dbSNP: rs771074100

Total submissions: 6

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
Labcorp Genetics (formerly Invitae), Labcorp	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 Laboratory, 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]
All of Us Research Program, National Institutes of Health	RCV004006700	SCV004820407	likely benign	Primary dilated cardiomyopathy	2023-09-17	criteria provided, single submitter	clinical testing