ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3291C>T (p.Cys1097=) (rs370170353)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087799 SCV000648690 likely benign Neuroblastoma 3 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731882 SCV000859750 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019712 SCV001181104 likely benign Hereditary cancer-predisposing syndrome 2018-11-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV001087799 SCV001300468 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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