ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.2222G>A (p.Arg741Lys) (rs114719193)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711172 SCV000341857 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV000636633 SCV000758072 likely benign Familial infantile myasthenia 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711172 SCV000841502 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing

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