ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3515+18C>T

gnomAD frequency: 0.00409  dbSNP: rs79325200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608433 SCV000729795 likely benign not specified 2017-06-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064378 SCV002386284 benign Neuroblastoma, susceptibility to, 3 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002064378 SCV003800182 benign Neuroblastoma, susceptibility to, 3 2023-06-29 criteria provided, single submitter clinical testing

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