ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.258G>A (p.Ser86=) (rs778636468)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253999 SCV000313625 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000930256 SCV001075904 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV001506274 SCV001711193 likely benign Familial infantile myasthenia 2018-09-27 criteria provided, single submitter clinical testing

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