ClinVar Miner

Submissions for variant NM_002941.4(ROBO1):c.1342+1G>A

dbSNP: rs2081036277
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Total submissions: 2
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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 RCV001290318 SCV001468636 pathogenic Congenital anomaly of kidney and urinary tract 2021-01-09 criteria provided, single submitter clinical testing
OMIM RCV003224888 SCV003853327 pathogenic Neurooculorenal syndrome 2023-04-05 no assertion criteria provided literature only

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