ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2959-17C>T

gnomAD frequency: 0.21622  dbSNP: rs2303641
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000380665 SCV000339511 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000380665 SCV000520278 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 RCV000590290 SCV000699364 benign not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The ADAMTS2 c.2959-17C>T 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 create a novel 5' splicing donor site. These predictions have yet to be confirmed by functional studies. This variant was found in 6160/20738 control chromosomes (887 homozygotes) at a frequency of 0.2970393, which is approximately 103 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 RCV000614977 SCV001762554 benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV000614977 SCV002356689 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614977 SCV000734396 benign Ehlers-Danlos syndrome, dermatosparaxis type no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000614977 SCV000745660 benign Ehlers-Danlos syndrome, dermatosparaxis type 2014-02-04 no assertion criteria provided clinical testing

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