ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.864C>T (p.Asp288=)

gnomAD frequency: 0.00002  dbSNP: rs766217426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002540871 SCV001059437 likely benign Familial infantile myasthenia 2023-12-11 criteria provided, single submitter clinical testing

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