ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1238+18G>A (rs2278222)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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.
Integrated Genetics/Laboratory Corporation of America 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.
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,VU University Medical Center Amsterdam RCV000611691 SCV000745662 benign Ehlers-Danlos syndrome dermatosparaxis type 2014-02-04 no assertion criteria provided clinical testing

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