Submissions for variant NM_000304.4(PMP22):c.87C>T (p.Ile29=)

gnomAD frequency: 0.00014  dbSNP: rs201192820

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000550183	SCV000636225	likely benign	Charcot-Marie-Tooth disease, type I	2023-12-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001093240	SCV001250123	likely benign	not provided	2019-10-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172745	SCV001335811	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001093240	SCV001898287	likely benign	not provided	2020-12-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9888385)
Ambry Genetics	RCV002377053	SCV002687897	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: 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.
PreventionGenetics, part of Exact Sciences	RCV003925631	SCV004750909	likely benign	PMP22-related condition	2019-05-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).