ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.417G>A (p.Lys139=)

gnomAD frequency: 0.00001  dbSNP: rs978498374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119486 SCV002396188 likely benign Neuroblastoma, susceptibility to, 3 2022-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331731 SCV002628471 likely benign Hereditary cancer-predisposing syndrome 2022-06-03 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.

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