ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4194G>A (p.Pro1398=)

gnomAD frequency: 0.00003  dbSNP: rs201653228
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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 RCV000864429 SCV001005229 likely benign Neuroblastoma, susceptibility to, 3 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892804 SCV004710866 likely benign ALK-related disorder 2022-01-18 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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