ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3359+6C>T (rs4622670)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247642 SCV000310074 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320808 SCV000429934 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247642 SCV000518939 benign not specified 2016-03-03 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 RCV000586862 SCV000698291 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The ALK c.3359+6C>T variant affects a non-conserved intronic nucleotide. Mutation Taster predicts the variant is a polymorphism, and 5/5 Alamut algorithms predict no significant changes to splicing. This variant was found in 35057/121070 control chromosomes (6051 homozygotes) at a frequency of 0.2895598, which is about 694943 times the maximal expected frequency of a pathogenic ALK allele (0.0000004), suggesting this variant is benign. Taken together, this variant was classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000612723 SCV000744254 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612723 SCV000734189 benign Neuroblastoma 3 no assertion criteria provided clinical testing

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