ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.754C>T (p.His252Tyr)

gnomAD frequency: 0.00023  dbSNP: rs376994468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878532 SCV001021453 likely benign Familial infantile myasthenia 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000878532 SCV003833244 uncertain significance Familial infantile myasthenia 2023-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908367 SCV004718839 likely benign CHAT-related disorder 2023-02-15 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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