ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.846C>T (p.Asp282=)

gnomAD frequency: 0.00001  dbSNP: rs56116528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696783 SCV000535323 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Invitae RCV000527675 SCV000648778 benign Neuroblastoma, susceptibility to, 3 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446752 SCV002676694 likely benign Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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