ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1111+8G>A

gnomAD frequency: 0.00191  dbSNP: rs142454032
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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 RCV000636641 SCV000758080 benign Familial infantile myasthenia 2024-01-30 criteria provided, single submitter clinical testing

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