ClinVar Miner

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

dbSNP: rs113994088
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019710 SCV000040008 risk factor Neuroblastoma, susceptibility to, 3 2008-10-16 no assertion criteria provided literature only
GeneReviews RCV000019710 SCV000041065 not provided Neuroblastoma, susceptibility to, 3 no assertion provided literature only
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000019710 SCV000256812 pathogenic Neuroblastoma, susceptibility to, 3 2015-10-07 no assertion criteria provided clinical testing

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