ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3654C>T (p.Pro1218=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002346651 SCV002618953 likely benign Hereditary cancer-predisposing syndrome 2021-11-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102417 SCV002992584 likely benign Neuroblastoma, susceptibility to, 3 2022-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418455 SCV004144013 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ALK: PM2:Supporting, BP4, BP7

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