ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1814G>A (p.Arg605His)

gnomAD frequency: 0.00006  dbSNP: rs199926163
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
Invitae RCV000707028 SCV000836106 likely benign Familial infantile myasthenia 2024-01-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000707028 SCV003833227 uncertain significance Familial infantile myasthenia 2020-03-09 criteria provided, single submitter clinical testing

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