ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3420C>T (p.Asn1140=)

dbSNP: rs150785816
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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 RCV000551056 SCV000648694 likely benign Neuroblastoma, susceptibility to, 3 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020262 SCV001181717 likely benign Hereditary cancer-predisposing syndrome 2018-07-03 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 RCV003424129 SCV004144018 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ALK: BP4, BP7

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