Submissions for variant NM_014244.5(ADAMTS2):c.1238+18G>A

gnomAD frequency: 0.20277  dbSNP: rs2278222

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000327648	SCV000342086	benign	not specified	2016-05-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000327648	SCV000520273	benign	not specified	2016-10-06	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590412	SCV000699361	benign	not provided	2016-11-25	criteria provided, single submitter	clinical testing	Variant summary: The ADAMTS2 c.1238+18G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, this variant may strengthen a crptic 5' splicing donor site. These predictions have yet to be confirmed by functional studies. This variant was found in 22005/70686 control chromosomes (2714 homozygotes) at a frequency of 0.3113063, which is approximately 108 times the estimated maximal expected allele frequency of a pathogenic ADAMTS2 variant (0.0028868), suggesting this variant is likely a benign polymorphism. In addition, the variant of interest has been cited as Benign by a reputable database/clinical laboratory. Taken together, this variant is classified as benign.
Genome-Nilou Lab	RCV000611691	SCV001762707	benign	Ehlers-Danlos syndrome, dermatosparaxis type	2021-07-10	criteria provided, single submitter	clinical testing
Invitae	RCV000611691	SCV002390692	benign	Ehlers-Danlos syndrome, dermatosparaxis type	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611691	SCV000734398	benign	Ehlers-Danlos syndrome, dermatosparaxis type		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000611691	SCV000745662	benign	Ehlers-Danlos syndrome, dermatosparaxis type	2014-02-04	no assertion criteria provided	clinical testing