ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.222C>T (p.Thr74=) (rs767600029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550513 SCV000634130 likely benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001506237 SCV001711156 likely benign Familial infantile myasthenia 2020-03-07 criteria provided, single submitter clinical testing

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