ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.287-442C>T

dbSNP: rs41306415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550846 SCV001771243 likely benign not provided 2020-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001550846 SCV005220695 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003921209 SCV004735825 benign CHAT-related disorder 2019-07-03 no assertion criteria provided 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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