ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) (rs398829)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000384500 SCV000456882 benign Ehlers-Danlos syndrome, type vii, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000425362 SCV000520268 benign not specified 2016-09-29 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 RCV000589550 SCV000699363 benign not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The ADAMTS2 c.733G>A (p.Val245Ile) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant was found in 42957/120864 control chromosomes (8516 homozygotes) at a frequency of 0.355416, which is approximately 123 times the estimated maximal expected allele frequency of a pathogenic ADAMTS2 variant (0.0028868), suggesting this variant is likely a benign polymorphism. . The variant of interest has been cited as Polymorphism in published report(s). Taking together, based on the prevalence in general population the variant was classified as Benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000384500 SCV000734401 benign Ehlers-Danlos syndrome, type vii, autosomal recessive no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000384500 SCV000745665 benign Ehlers-Danlos syndrome, type vii, autosomal recessive 2014-02-04 no assertion criteria provided clinical testing

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