ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4165-6C>T (rs17007646)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252384 SCV000310075 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000252384 SCV000335368 benign not specified 2015-09-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366824 SCV000429926 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000252384 SCV000518935 benign not specified 2016-04-05 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 RCV000586724 SCV000698294 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The variant of interest is located at a non-conserved intronic position, not widely known to affect splicing, with 4/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 15272/116488 (1/7 including 1465 homozygotes), which exceeds the predicted maximum expected allele frequency for a pathogenic ALK of 1/2500000. The variant of interest, to our knowledge, has not been published in affected individuals. A reputable clinical laboratory cites the variant with a classification of "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.

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