ClinVar Miner

Submissions for variant NM_144639.3(UROC1):c.351+18C>T

dbSNP: rs729456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245194 SCV002514214 benign Urocanate hydratase deficiency 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716889 SCV005303683 benign not provided criteria provided, single submitter not provided

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