ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.530G>A (p.Arg177His)

dbSNP: rs1566778651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000681879 SCV000809358 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735668 SCV000863810 pathogenic Focal segmental glomerulosclerosis 5 2018-02-13 no assertion criteria provided clinical testing

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