ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7557+15T>C

gnomAD frequency: 0.01339  dbSNP: rs59817706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513961 SCV000610763 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509929 SCV001716842 benign Vici syndrome 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000513961 SCV001830677 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing

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