ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1674C>T (p.Ser558=) (rs7073028)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116693 SCV000150662 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116693 SCV000313621 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000546596 SCV000634121 benign Familial infantile myasthenia 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000116693 SCV000729901 benign not specified 2016-12-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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