ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2507T>C (p.Ile836Thr)

dbSNP: rs767351070
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110591 SCV001268048 benign Focal segmental glomerulosclerosis 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001675982 SCV001895799 benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002556164 SCV003298437 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-31 criteria provided, single submitter clinical testing
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences RCV001261425 SCV001438716 drug response Corticosteroids response 2020-01-12 no assertion criteria provided research Depending upon response to standard corticosteroid therapy, patients were classified to be either Steroid resistant (SRNS) or steroid sensitive (SSNS). Patients in remission within 4 weeks of corticosteroid therapy were classified as steroid sensitive nephrotic syndrome (SSNS). Patients not in remission within 4 weeks of corticosteroid therapy were classified as Steroid resistant nephrotic syndrome (SRNS).

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