Submissions for variant NM_000117.3(EMD):c.671C>T (p.Pro224Leu)

gnomAD frequency: 0.00003  dbSNP: rs782559230

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183446	SCV000235906	uncertain significance	not provided	2020-03-10	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID 201777; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30847666)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000638226	SCV000759712	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2024-01-24	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003491932	SCV003833446	uncertain significance	Emery-Dreifuss muscular dystrophy 1, X-linked	2019-08-09	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271620	SCV001452896	uncertain significance	Emery-Dreifuss muscular dystrophy	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000183446	SCV002034585	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000183446	SCV002035081	uncertain significance	not provided		no assertion criteria provided	clinical testing