ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2148C>T (p.Ser716=)

gnomAD frequency: 0.00096  dbSNP: rs55733526
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232345 SCV000288323 benign Neuroblastoma, susceptibility to, 3 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232345 SCV000429951 benign Neuroblastoma, susceptibility to, 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000603884 SCV000732284 likely benign not specified 2017-04-12 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.
Ambry Genetics RCV001014575 SCV001175299 likely benign Hereditary cancer-predisposing syndrome 2018-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603884 SCV002050949 benign not specified 2021-12-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000232345 SCV004016899 benign Neuroblastoma, susceptibility to, 3 2023-07-07 criteria provided, single submitter clinical testing

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