ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.118C>T (p.Pro40Ser)

gnomAD frequency: 0.00026  dbSNP: rs371679329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544242 SCV000648602 likely benign Neuroblastoma, susceptibility to, 3 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV004722906 SCV005333673 uncertain significance not provided 2023-12-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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