ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1528C>T (p.Arg510Trp)

gnomAD frequency: 0.00013  dbSNP: rs201449759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532921 SCV000648615 likely benign Neuroblastoma, susceptibility to, 3 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900208 SCV004717681 likely benign ALK-related condition 2020-12-24 criteria provided, single submitter 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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