ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3192G>A (p.Gln1064=)

dbSNP: rs868053991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557235 SCV000648686 likely benign Neuroblastoma, susceptibility to, 3 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324013 SCV002609669 likely benign Hereditary cancer-predisposing syndrome 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000557235 SCV004016766 likely benign Neuroblastoma, susceptibility to, 3 2023-07-07 criteria provided, single submitter clinical testing

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