ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2632+11dup

gnomAD frequency: 0.00205  dbSNP: rs766699720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607105 SCV000716911 likely benign not specified 2017-09-14 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.
Invitae RCV002063037 SCV002424500 benign Neuroblastoma, susceptibility to, 3 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256405 SCV002528437 benign Hereditary cancer-predisposing syndrome 2020-03-23 criteria provided, single submitter curation

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