ClinVar Miner

Submissions for variant NM_002941.4(ROBO1):c.687C>G (p.Tyr229Ter)

dbSNP: rs781328659
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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 RCV001391193 SCV001593100 pathogenic Congenital anomaly of kidney and urinary tract 2021-05-10 criteria provided, single submitter clinical testing PVS1_VeryStrong, PM2_Supporting, PM3_Moderate
OMIM RCV003159565 SCV003853329 pathogenic Neurooculorenal syndrome 2023-04-05 no assertion criteria provided literature only

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