ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.4700+12A>G

gnomAD frequency: 0.85593  dbSNP: rs2054389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253418 SCV000316558 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640584 SCV001855817 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001640584 SCV002405774 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244713 SCV002515008 benign Johanson-Blizzard syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640584 SCV005289987 benign not provided criteria provided, single submitter not provided

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