Submissions for variant NM_000304.4(PMP22):c.*59A>C

gnomAD frequency: 0.56905  dbSNP: rs13422

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000330964	SCV000400711	benign	Hereditary liability to pressure palsies	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355581	SCV000400712	benign	Charcot-Marie-Tooth disease, type I	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000355581	SCV000920440	benign	Charcot-Marie-Tooth disease, type I	2019-01-30	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172751	SCV001335817	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001613031	SCV001832967	benign	not provided	2018-06-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001613031	SCV005247964	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699367	SCV001922449	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001699367	SCV001963425	benign	not specified		no assertion criteria provided	clinical testing