ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.879+20C>T

gnomAD frequency: 0.00873  dbSNP: rs77037803
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Total submissions: 4
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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 RCV000514057 SCV000610150 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514057 SCV002349960 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481660 SCV002794759 likely benign Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2022-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514057 SCV005264328 likely benign not provided criteria provided, single submitter not provided

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