ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3153C>T (p.Asp1051=)

gnomAD frequency: 0.01185  dbSNP: rs117457867
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245204 SCV000314104 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278972 SCV000385298 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 RCV000245204 SCV000522784 benign not specified 2016-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000538402 SCV000652106 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711991 SCV000842404 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711991 SCV001471765 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294196 SCV002587301 benign Focal segmental glomerulosclerosis 2021-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000538402 SCV002809424 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711991 SCV005296678 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000245204 SCV001916989 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245204 SCV001932658 benign not specified no assertion criteria provided clinical testing

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