ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4752C>T (p.Tyr1584=)

gnomAD frequency: 0.00001  dbSNP: rs758556216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465134 SCV000554778 likely benign Neuroblastoma, susceptibility to, 3 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329089 SCV002633809 likely benign Hereditary cancer-predisposing syndrome 2022-05-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV003409642 SCV004144005 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ALK: BP4, BP7

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