ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr)

gnomAD frequency: 0.00186  dbSNP: rs140990611
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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 RCV000503111 SCV000596581 uncertain significance not specified 2016-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000874025 SCV001016144 likely benign Myasthenic syndrome, congenital, 22 2023-11-22 criteria provided, single submitter clinical testing

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