ClinVar Miner

Submissions for variant NM_002941.4(ROBO1):c.4156G>T (p.Gly1386Ter)

dbSNP: rs777460645
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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 RCV001391191 SCV001593098 pathogenic Congenital anomaly of kidney and urinary tract 2021-05-10 criteria provided, single submitter clinical testing PVS1_VeryStrong, PM2_Supporting, PM3_Moderate

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