ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1630-18T>C (rs2303638)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441362 SCV000520275 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 RCV000587536 SCV000699362 benign not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The c.1630-18T>C in ADAMTS2 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.261 (31732/121274 chrs tested), including 4523 homozygotes. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.0029), suggesting that it is a benign polymorphism. Taking together, based on the prevalence in general population the variant was classified as Benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604542 SCV000734397 benign Ehlers-Danlos syndrome dermatosparaxis type no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000604542 SCV000745661 benign Ehlers-Danlos syndrome dermatosparaxis type 2014-02-04 no assertion criteria provided clinical testing

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