ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.27C>G (p.Leu9=) (rs4358080)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250274 SCV000310072 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324219 SCV000429977 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000250274 SCV000518931 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000250274 SCV000538276 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
Ambry Genetics RCV000562030 SCV000664937 benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586439 SCV000698288 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.27C>G variant affects a non-conserved nucleotide, resulting in no amino acid change. 5/5 splice-site tools in Alamut predict no effect on normal splicing. This variant is found in 20199/22570 control chromosomes (9031 homozygotes) at a frequency of 0.894949, which is about 2147877 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000601680 SCV000744261 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601680 SCV000734193 benign Neuroblastoma 3 no assertion criteria provided clinical testing

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