ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1087-47A>G

gnomAD frequency: 0.71897  dbSNP: rs2033951
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001675103 SCV001892753 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789512 SCV002031831 benign Myasthenic syndrome, congenital, 22 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675103 SCV005240666 benign not provided criteria provided, single submitter not provided

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