Submissions for variant NM_181882.3(PRX):c.2043C>T (p.Pro681=)

gnomAD frequency: 0.00259  dbSNP: rs56743160

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000286932	SCV000343823	benign	not specified	2016-08-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000286932	SCV000527694	likely benign	not specified	2017-10-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470157	SCV000561600	benign	Charcot-Marie-Tooth disease type 4	2025-01-20	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173095	SCV001336171	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418130	SCV002724022	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV004703581	SCV005208364	likely benign	not provided		criteria provided, single submitter	not provided