Submissions for variant NM_001130987.2(DYSF):c.239+20G>A

gnomAD frequency: 0.08061  dbSNP: rs12470028

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080251	SCV000112146	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080251	SCV000309658	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080251	SCV000519287	benign	not specified	2016-01-28	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.
Genome-Nilou Lab	RCV001527300	SCV001738263	benign	Miyoshi muscular dystrophy 1	2021-06-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055160	SCV002447922	benign	Qualitative or quantitative defects of dysferlin	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004707918	SCV005240150	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080251	SCV001920062	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080251	SCV001951827	benign	not specified		no assertion criteria provided	clinical testing