Submissions for variant NM_170707.4(LMNA):c.1728C>T (p.Pro576=)

gnomAD frequency: 0.00001  dbSNP: rs767783294

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001190694	SCV001358263	likely benign	Cardiomyopathy	2018-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV001401960	SCV001603799	likely benign	Charcot-Marie-Tooth disease type 2	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411718	SCV002715628	likely benign	Cardiovascular phenotype	2020-02-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV001699519	SCV001926032	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724264	SCV001954395	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001724264	SCV001978168	likely benign	not provided		no assertion criteria provided	clinical testing