ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)

dbSNP: rs863225283
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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 RCV000201887 SCV000256822 pathogenic Neuroblastoma, susceptibility to, 3 2015-10-07 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000444691 SCV000503773 pathogenic Neuroblastoma 2014-10-02 no assertion criteria provided literature only

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