Submissions for variant NM_170707.4(LMNA):c.1488+8G>A (rs762836610)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000220172	SCV000270359	likely benign	not specified	2015-01-29	criteria provided, single submitter	clinical testing	c.1488+8G>A in intron 8 of LMNA: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 0.1% (22/16602) South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000725758	SCV000339206	uncertain significance	not provided	2016-02-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000220172	SCV000525280	likely benign	not specified	2016-03-03	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	RCV001088656	SCV000775904	benign	Charcot-Marie-Tooth disease, type 2	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173413	SCV001336501	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing