ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1648-10G>A

gnomAD frequency: 0.00011  dbSNP: rs375646347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233806 SCV000288318 likely benign Neuroblastoma, susceptibility to, 3 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001697612 SCV000717568 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257556 SCV002528399 benign Hereditary cancer-predisposing syndrome 2021-02-03 criteria provided, single submitter curation

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