ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)

dbSNP: rs1591517921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993356 SCV001146254 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing
3billion RCV001029872 SCV002058257 uncertain significance Focal segmental glomerulosclerosis 2 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.811, PP3_P). A missense variant is a common mechanism associated with Glomerulosclerosis (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029872 SCV001192661 uncertain significance Focal segmental glomerulosclerosis 2 2019-11-22 no assertion criteria provided clinical testing

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