ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1584T>C (p.Ala528=)

gnomAD frequency: 0.00021  dbSNP: rs368877224
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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 RCV000863883 SCV001004612 likely benign Neuroblastoma, susceptibility to, 3 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399876 SCV002705647 likely benign Hereditary cancer-predisposing syndrome 2022-02-12 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.
PreventionGenetics, part of Exact Sciences RCV003955611 SCV004767803 likely benign ALK-related disorder 2019-12-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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