ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1648C>T (p.Leu550Phe)

gnomAD frequency: 0.00006  dbSNP: rs769821764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467087 SCV000554744 likely benign Neuroblastoma, susceptibility to, 3 2023-12-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256282 SCV002528400 likely benign Hereditary cancer-predisposing syndrome 2022-02-10 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153651 SCV003843817 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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