ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.234A>G (p.Glu78=)

gnomAD frequency: 0.00001  dbSNP: rs1572895650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000911250 SCV001056311 likely benign Myasthenic syndrome, congenital, 22 2022-07-06 criteria provided, single submitter clinical testing

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