ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1311G>A (p.Leu437=)

gnomAD frequency: 0.00001  dbSNP: rs757241673
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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 RCV001441854 SCV001644794 likely benign Neuroblastoma, susceptibility to, 3 2022-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384676 SCV002692027 likely benign Hereditary cancer-predisposing syndrome 2022-09-26 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.
GeneDx RCV003227975 SCV003924977 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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