ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)

gnomAD frequency: 0.00007  dbSNP: rs757733319
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696693 SCV000825266 likely benign Familial infantile myasthenia 2024-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000696693 SCV003833247 uncertain significance Familial infantile myasthenia 2019-06-25 criteria provided, single submitter clinical testing

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