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

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000487806	SCV000292557	likely benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
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	2020-10-21	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
Baylor Genetics	RCV001334034	SCV001526769	uncertain significance	Charcot-Marie-Tooth disease axonal type 2K	2018-11-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Functional Genomics,Research Centre for Medical Genetics	RCV001334034	SCV001781229	likely benign	Charcot-Marie-Tooth disease axonal type 2K	2021-08-12	criteria provided, single submitter	clinical testing	Splicing variant c.310+6delG in GDAP1 gene could be classified as likely benign variant according to AСMG criteria (PM2, BP4, BS3, PM3). The variant vas observed in 31 y.o. female patient with Charcot-Marie-Tooth disease with axonal type of lession in compound heterozygous state with pathogenic c.715C>T variant.