ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2478C>T (p.Tyr826=) (rs142126984)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229775 SCV000288328 likely benign Neuroblastoma 3 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565503 SCV000672463 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000229775 SCV001299494 benign Neuroblastoma 3 2017-04-28 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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