ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys)

gnomAD frequency: 0.00001  dbSNP: rs202128397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000157655 SCV000207606 pathogenic Focal segmental glomerulosclerosis 9 2015-01-08 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003815 SCV001162266 likely pathogenic Steroid-resistant nephrotic syndrome no assertion criteria provided research

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