ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.217G>A (p.Gly73Ser)

dbSNP: rs1566777560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539491 SCV001757277 pathogenic not provided 2021-03-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31096240, 23014460)
Fulgent Genetics, Fulgent Genetics RCV002493369 SCV002786720 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-03-15 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735730 SCV000863883 pathogenic Focal segmental glomerulosclerosis 5 2018-05-17 no assertion criteria provided clinical testing

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