Submissions for variant NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) (rs34836829)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000080258	SCV000112153	benign	not specified	2013-11-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000080258	SCV000269051	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Pro952Pro in exon 26 of DYSF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4.3% (370/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34836829).
PreventionGenetics,PreventionGenetics	RCV000080258	SCV000309662	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080258	SCV000522877	benign	not specified	2016-02-10	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.
Invitae	RCV000556584	SCV000649639	benign	Dysferlinopathy	2017-08-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080258	SCV000151021	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.