ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2633-4G>A

gnomAD frequency: 0.00031  dbSNP: rs199575811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472245 SCV000554773 likely benign Neuroblastoma, susceptibility to, 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000603981 SCV000715894 likely benign not specified 2017-02-10 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.
Sema4, Sema4 RCV002257730 SCV002528438 benign Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter curation

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