Submissions for variant NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) (rs121908954)

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000153183	SCV000613205	likely benign	not specified	2016-11-11	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658868	SCV000780667	likely benign	not provided	2018-02-28	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000153183	SCV000332041	benign	not specified	2015-07-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000153183	SCV000512918	likely benign	not specified	2018-03-06	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.
GenomeConnect, ClinGen	RCV000509353	SCV000606886	not provided	Dysferlinopathy		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae	RCV000509353	SCV000649673	benign	Dysferlinopathy	2018-01-04	criteria provided, single submitter	clinical testing
OMIM	RCV000007049	SCV000027245	pathogenic	Miyoshi muscular dystrophy 1	1998-09-01	no assertion criteria provided	literature only
OMIM	RCV000681611	SCV000809051	pathogenic	Limb-girdle muscular dystrophy, type 2B	1998-09-01	no assertion criteria provided	literature only
PreventionGenetics	RCV000153183	SCV000309678	likely benign	not specified		criteria provided, single submitter	clinical testing