ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) (rs113994088)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019710 SCV000040008 risk factor Neuroblastoma 3 2008-10-16 no assertion criteria provided literature only
GeneReviews RCV000019710 SCV000041065 pathologic Neuroblastoma 3 2012-09-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000019710 SCV000256812 pathogenic Neuroblastoma 3 2015-10-07 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000438595 SCV000505288 likely pathogenic Neuroblastoma 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421391 SCV000505289 likely pathogenic Neoplasm of brain 2014-12-26 no assertion criteria provided literature only

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