ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4785C>T (p.Ala1595=) (rs76150405)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226683 SCV000288370 benign Neuroblastoma 3 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000613276 SCV000719265 likely benign not specified 2017-05-06 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858250 SCV001152217 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023045 SCV001184860 likely benign Hereditary cancer-predisposing syndrome 2018-11-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000226683 SCV001299243 likely benign Neuroblastoma 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000226683 SCV000734183 likely benign Neuroblastoma 3 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000226683 SCV000745621 likely benign Neuroblastoma 3 2016-01-15 no assertion criteria provided clinical testing

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