ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.254C>G (p.Ser85Trp)

dbSNP: rs1317776692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029795 SCV001192574 pathogenic Focal segmental glomerulosclerosis 5 2019-06-03 no assertion criteria provided clinical testing

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