ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.592G>A (p.Val198Met)

gnomAD frequency: 0.00221  dbSNP: rs77677701
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227457 SCV000288373 benign Neuroblastoma, susceptibility to, 3 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255289 SCV002528530 benign Hereditary cancer-predisposing syndrome 2021-03-19 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000227457 SCV004016733 benign Neuroblastoma, susceptibility to, 3 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000119964 SCV000084094 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000119964 SCV003839571 likely benign not specified 2022-06-20 no assertion criteria provided clinical testing

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