ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.702+17G>T

dbSNP: rs375710277
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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 RCV002858200 SCV003229465 likely benign Myasthenic syndrome, congenital, 22 2024-05-31 criteria provided, single submitter clinical testing

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