ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.2695A>G (p.Ile899Val)

gnomAD frequency: 0.01889  dbSNP: rs35069201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253719 SCV000316555 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058447 SCV002381314 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503952 SCV002809548 likely benign Johanson-Blizzard syndrome 2022-02-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002058447 SCV005289999 benign not provided criteria provided, single submitter not provided

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