ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) (rs868749)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514328 SCV000609984 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV000530175 SCV000634143 benign Familial infantile myasthenia 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241883 SCV000313634 likely benign not specified criteria provided, single submitter clinical testing

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