ClinVar Miner

Submissions for variant NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)

gnomAD frequency: 0.00012  dbSNP: rs777064285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262307 SCV001440121 uncertain significance Clubfoot; Renal cyst; Abnormality of the face; Cystic renal dysplasia; Abnormal finger morphology 2019-01-01 criteria provided, single submitter clinical testing

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