ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.745C>G (p.Leu249Val)

gnomAD frequency: 0.00392  dbSNP: rs115510708
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195092 SCV000247008 likely benign not specified 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001721249 SCV000519219 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Invitae RCV000533227 SCV000634140 benign Familial infantile myasthenia 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000533227 SCV002794946 likely benign Familial infantile myasthenia 2021-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895243 SCV004708805 benign CHAT-related disorder 2020-10-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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