Submissions for variant NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)

gnomAD frequency: 0.00014  dbSNP: rs191337920

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251826	SCV000309660	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726086	SCV000341845	uncertain significance	not provided	2016-05-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000251826	SCV000527733	likely benign	not specified	2018-03-15	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.
Genetic Services Laboratory, University of Chicago	RCV000251826	SCV000594486	likely benign	not specified	2016-01-22	criteria provided, single submitter	clinical testing
Invitae	RCV001086817	SCV000649632	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271794	SCV001453234	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-04-23	no assertion criteria provided	clinical testing