ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1500A>G (p.Gln500=) (rs2293564)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564941 SCV000664935 benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000604893 SCV000744257 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604893 SCV000734191 benign Neuroblastoma 3 no assertion criteria provided clinical testing
GeneDx RCV000244976 SCV000518933 benign not specified 2016-03-02 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 RCV000281550 SCV000429959 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586007 SCV000698285 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.1500A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts polymorphism outcome for this variant. This variant is found in 105818/121402 control chromosomes (46888 homozygotes) at a frequency of 0.8716331, which is about 2091919 times of the maximal expected frequency of a pathogenic allele (0.0000004), suggesting this variant to be the ancestral allele; therefore it is classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000244976 SCV000538273 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
PreventionGenetics RCV000244976 SCV000310068 benign not specified criteria provided, single submitter clinical testing

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