ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) (rs113994091)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020341 SCV001181806 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-04 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000019712 SCV001299378 likely benign Neuroblastoma 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000019712 SCV000040010 risk factor Neuroblastoma 3 2008-10-16 no assertion criteria provided literature only
GeneReviews RCV000019712 SCV000041066 pathologic Neuroblastoma 3 2012-09-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Database of Curated Mutations (DoCM) RCV000439097 SCV000503784 pathogenic Neuroblastoma 2014-10-02 no assertion criteria provided literature only

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