ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.119G>T (p.Gly40Val)

gnomAD frequency: 0.00010  dbSNP: rs776411377
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 RCV000806042 SCV000946022 likely benign Familial infantile myasthenia 2024-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000806042 SCV003831680 uncertain significance Familial infantile myasthenia 2019-10-29 criteria provided, single submitter clinical testing

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