ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)

dbSNP: rs281864720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000201924 SCV000256821 pathogenic Neuroblastoma, susceptibility to, 3 2015-11-06 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000439786 SCV000510429 likely pathogenic Neuroblastoma 2016-05-13 no assertion criteria provided literature only

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