ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys)

gnomAD frequency: 0.00008  dbSNP: rs773867044
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540367 SCV000660109 likely benign Myasthenic syndrome, congenital, 22 2023-10-02 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000540367 SCV000923523 likely benign Myasthenic syndrome, congenital, 22 2019-01-01 criteria provided, single submitter clinical testing

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