Submissions for variant NM_170707.4(LMNA):c.1699-8C>G

gnomAD frequency: 0.00001  dbSNP: rs727503137

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150956	SCV000198619	uncertain significance	not specified	2014-09-25	criteria provided, single submitter	clinical testing	The 1699-8C>G variant in LMNA has not been previously reported in individuals wi th cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this informatio n is not predictive enough to rule out pathogenicity. In summary, the clinical s ignificance of the 1699-8C>G variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769731	SCV000901152	uncertain significance	Cardiomyopathy	2017-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV000876929	SCV001019570	likely benign	Charcot-Marie-Tooth disease type 2	2023-02-06	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173401	SCV001336489	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001775636	SCV002013381	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769731	SCV004359129	likely benign	Cardiomyopathy	2022-10-14	criteria provided, single submitter	clinical testing