Submissions for variant NM_018972.4(GDAP1):c.310+6del (rs780828430)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235258	SCV000292557	likely benign	not specified	2017-05-04	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.
Illumina Clinical Services Laboratory,Illumina	RCV000314404	SCV000474960	uncertain significance	Charcot-Marie-Tooth with Vocal Cord Paresis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000369024	SCV000474961	uncertain significance	Charcot-Marie-Tooth, Intermediate	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000487806	SCV000575561	uncertain significance	not provided	2019-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001079588	SCV000644064	likely benign	Charcot-Marie-Tooth disease, type 4A	2019-12-30	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173553	SCV001336643	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing