ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3970-8C>T

gnomAD frequency: 0.00476  dbSNP: rs11569540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887117 SCV001030656 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294398 SCV002587685 likely benign Atypical hemolytic-uremic syndrome 2020-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151179 SCV003839296 likely benign not specified 2022-11-28 no assertion criteria provided clinical testing

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