ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3173-11C>T

gnomAD frequency: 0.00013  dbSNP: rs79339096
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289200 SCV000429936 uncertain significance Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000418057 SCV000531451 likely benign not specified 2016-09-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000138 SCV001156606 likely benign Neuroblastoma, susceptibility to, 3 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001000138 SCV002394130 likely benign Neuroblastoma, susceptibility to, 3 2024-01-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257646 SCV002528465 benign Hereditary cancer-predisposing syndrome 2021-03-31 criteria provided, single submitter curation

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