ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3036G>A (p.Thr1012=) (rs2293563)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000587860 SCV000883389 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566995 SCV000664938 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000242049 SCV000518944 benign not specified 2016-05-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000294952 SCV000429939 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587860 SCV000698289 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.3036G>A in ALK gene is a synonymous change that involves a non-conserved nucleotide. 3/5 splice-site tools in Alamut predict that this variant disrupts a cryptic splice donor site meanwhile creating a cryptic splice acceptor site as predicted by 2/5 tools; 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 16%. The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.0004%, suggesting that it is a benign polymorphism. The variant of interest has not been reported by reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
PreventionGenetics RCV000242049 SCV000310073 benign not specified criteria provided, single submitter clinical testing

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