Submissions for variant NM_000304.4(PMP22):c.178+7C>A (rs147885521)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081441	SCV000562722	likely benign	Charcot-Marie-Tooth disease, type I	2020-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000614118	SCV000729478	likely benign	not specified	2018-03-15	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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000456190	SCV001151225	likely benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001081441	SCV001281295	uncertain significance	Charcot-Marie-Tooth disease, type I	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina	RCV001122570	SCV001281296	benign	Hereditary liability to pressure palsies	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173928	SCV001337047	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino	RCV001543104	SCV001761610	likely pathogenic	Toe walking	2019-05-05	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000614118	SCV001879480	benign	not specified	2020-11-23	criteria provided, single submitter	clinical testing