ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly)

gnomAD frequency: 0.00842  dbSNP: rs77360687
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971625 SCV001119280 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262701 SCV001440663 likely benign Johanson-Blizzard syndrome 2019-01-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819115 SCV002070732 benign not specified 2017-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971625 SCV005214567 likely benign not provided criteria provided, single submitter not provided

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