ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1037G>A (p.Arg346His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225046 SCV001397281 likely benign Familial infantile myasthenia 2020-02-23 criteria provided, single submitter clinical testing

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