ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2979C>T (p.Asp993=)

gnomAD frequency: 0.00002  dbSNP: rs761999849
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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 RCV000540706 SCV000648676 likely benign Neuroblastoma, susceptibility to, 3 2023-11-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257823 SCV002528449 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter curation
Ambry Genetics RCV002257823 SCV002749231 likely benign Hereditary cancer-predisposing syndrome 2022-04-04 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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