ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.861C>T (p.Ser287=)

dbSNP: rs1321970113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162951 SCV002411273 likely benign Neuroblastoma, susceptibility to, 3 2021-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933492 SCV004763880 likely benign ALK-related disorder 2023-04-20 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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