Submissions for variant NM_000304.4(PMP22):c.320-4C>T

gnomAD frequency: 0.00024  dbSNP: rs377467465

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726910	SCV000523330	likely benign	not provided	2020-12-15	criteria provided, single submitter	clinical testing
Invitae	RCV001080913	SCV000636221	likely benign	Charcot-Marie-Tooth disease, type I	2024-01-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726910	SCV000704126	uncertain significance	not provided	2016-12-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726910	SCV001151224	likely benign	not provided	2016-10-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173926	SCV001337045	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002323607	SCV002609201	likely benign	Inborn genetic diseases	2020-08-10	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.