ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3363T>A (p.Gly1121=)

gnomAD frequency: 0.00004  dbSNP: rs201767904
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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 RCV000986610 SCV000554734 likely benign Neuroblastoma, susceptibility to, 3 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566012 SCV000672466 likely benign Hereditary cancer-predisposing syndrome 2017-02-13 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.
Mendelics RCV000986610 SCV001135647 likely benign Neuroblastoma, susceptibility to, 3 2019-05-28 criteria provided, single submitter clinical testing

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