ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.-49+1808A>T

gnomAD frequency: 0.00011  dbSNP: rs145087654
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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 RCV000877647 SCV001020417 likely benign Myasthenic syndrome, congenital, 22 2023-07-31 criteria provided, single submitter clinical testing

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