Submissions for variant NM_170707.4(LMNA):c.937-8C>G

dbSNP: rs751707982

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000774196	SCV000907897	likely benign	Cardiomyopathy	2018-10-08	criteria provided, single submitter	clinical testing
Invitae	RCV001456120	SCV001659896	likely benign	Charcot-Marie-Tooth disease type 2	2023-04-16	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003231611	SCV003928182	uncertain significance	Primary dilated cardiomyopathy		criteria provided, single submitter	research	Potent mutations in LMNA gene can lead to structural alteration in skeletal and cardiac muscle by altering the structure of Lamin A and Lamin C. It is associated with dilated cardiomyopathy and skeletal muscle dystrophies. However no sufficient evidence is found to ascertain the role of this particular variant rs751707982, yet.
GeneDx	RCV001796209	SCV004023891	uncertain significance	not provided	2023-02-06	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30402260)
Clinical Genetics, Academic Medical Center	RCV001796210	SCV002034524	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796209	SCV002035417	likely benign	not provided		no assertion criteria provided	clinical testing