ClinVar Miner

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

gnomAD frequency: 0.00005  dbSNP: rs779668516
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 RCV001225046 SCV001397281 likely benign Familial infantile myasthenia 2024-11-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001225046 SCV003833250 uncertain significance Familial infantile myasthenia 2023-10-04 criteria provided, single submitter clinical testing

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