Submissions for variant NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) (rs150807400)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000421448	SCV000226667	uncertain significance	not provided	2015-02-12	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000421448	SCV000510647	uncertain significance	not provided	2016-09-08	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000175222	SCV000521922	likely benign	not specified	2018-03-01	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	RCV001078661	SCV000646013	likely benign	Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c	2019-12-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001287535	SCV001474234	likely benign	none provided	2019-12-18	criteria provided, single submitter	clinical testing