ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1266C>T (p.Tyr422=)

gnomAD frequency: 0.00006  dbSNP: rs201381950
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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 RCV002188613 SCV002490063 likely benign Familial infantile myasthenia 2023-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971147 SCV004777303 likely benign CHAT-related disorder 2020-07-22 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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