Submissions for variant NM_001130987.2(DYSF):c.4222-20G>A

gnomAD frequency: 0.02442  dbSNP: rs111935215

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080285	SCV000112180	benign	not specified	2013-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080285	SCV000309685	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080285	SCV000523002	benign	not specified	2016-01-19	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	RCV001527266	SCV001738224	benign	Miyoshi muscular dystrophy 1	2021-06-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055165	SCV002339626	benign	Qualitative or quantitative defects of dysferlin	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795105	SCV005240220	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080285	SCV002034600	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795105	SCV002036460	likely benign	not provided		no assertion criteria provided	clinical testing