ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys)

dbSNP: rs1555003819
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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 RCV000625638 SCV000746139 likely pathogenic Focal segmental glomerulosclerosis 2 2017-09-27 no assertion criteria provided clinical testing

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