ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4146G>A (p.Arg1382=)

dbSNP: rs1553387973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605467 SCV000727347 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064294 SCV002369382 likely benign Neuroblastoma, susceptibility to, 3 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331077 SCV002628997 likely benign Hereditary cancer-predisposing syndrome 2022-05-07 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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