ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3633C>A (p.Thr1211=) (rs144437923)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000354447 SCV000429929 uncertain significance Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473322 SCV000554759 likely benign Neuroblastoma 3 2017-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571332 SCV000672467 likely benign Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000473322 SCV000744252 likely benign Neuroblastoma 3 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000473322 SCV000745624 likely benign Neuroblastoma 3 2016-01-15 no assertion criteria provided clinical testing

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