ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2550G>A (p.Gly850=)

dbSNP: rs772710286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156081 SCV002467786 likely benign Neuroblastoma, susceptibility to, 3 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427706 SCV002742951 likely benign Hereditary cancer-predisposing syndrome 2022-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002156081 SCV004562436 likely benign Neuroblastoma, susceptibility to, 3 2023-08-30 criteria provided, single submitter clinical testing

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