ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1554T>C (p.Ala518=)

gnomAD frequency: 0.00001  dbSNP: rs376644900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489192 SCV001693729 likely benign Neuroblastoma, susceptibility to, 3 2020-11-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255558 SCV002528393 likely benign Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter curation
Ambry Genetics RCV002255558 SCV002704355 likely benign Hereditary cancer-predisposing syndrome 2022-08-01 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 RCV003992414 SCV004811647 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing ALK: BP4, BP7

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