ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.916G>A (p.Val306Ile)

gnomAD frequency: 0.00001  dbSNP: rs551219437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514442 SCV001722289 benign Familial infantile myasthenia 2023-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001514442 SCV003831683 uncertain significance Familial infantile myasthenia 2019-06-03 criteria provided, single submitter clinical testing

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