ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.2379+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289270 SCV002579907 pathogenic Johanson-Blizzard syndrome 2022-05-11 criteria provided, single submitter clinical testing

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