Submissions for variant NM_170707.4(LMNA):c.640-52C>T

gnomAD frequency: 0.00091  dbSNP: rs41314033

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000731588	SCV000859428	uncertain significance	not provided	2018-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000731588	SCV000977921	likely benign	not provided	2018-03-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001511690	SCV001718974	benign	Charcot-Marie-Tooth disease type 2	2023-07-17	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000731588	SCV003816990	likely benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947934	SCV004761731	likely benign	LMNA-related condition	2021-05-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700299	SCV001927002	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700299	SCV001957480	benign	not specified		no assertion criteria provided	clinical testing