ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.-49+1883G>T

gnomAD frequency: 0.00027  dbSNP: rs199854790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501329 SCV000596580 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524274 SCV003244065 likely benign Myasthenic syndrome, congenital, 22 2022-02-18 criteria provided, single submitter clinical testing

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