ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.167G>A (p.Arg56His)

dbSNP: rs1595163730
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027720 SCV001190305 likely pathogenic Focal segmental glomerulosclerosis 5 2019-08-21 criteria provided, single submitter clinical testing

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