ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.702T>A (p.Pro234=) (rs2246745)

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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 RCV000571090 SCV000664936 benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000611999 SCV000744260 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611999 SCV000734192 benign Neuroblastoma 3 no assertion criteria provided clinical testing
GeneDx RCV000249360 SCV000518932 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 RCV000302546 SCV000429965 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588673 SCV000698301 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a synonymous change involving a conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 89037/121392 (34225 homozygotes) indicating that the variant of interest is the major allele (allele most commonly observed in the general population). Therefore, the variant of interest is classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000249360 SCV000538275 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 RCV000249360 SCV000310080 benign not specified criteria provided, single submitter clinical testing

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