ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.42G>A (p.Leu14=)

gnomAD frequency: 0.01192  dbSNP: rs62638758
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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 RCV000247445 SCV000314113 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280369 SCV000385252 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 RCV000247445 SCV000522785 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 RCV000554712 SCV000652130 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711994 SCV000842407 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711994 SCV000885617 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294199 SCV002587300 benign Focal segmental glomerulosclerosis 2021-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000554712 SCV002804692 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 RCV000711994 SCV005294694 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000247445 SCV001925504 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000247445 SCV001928914 benign not specified no assertion criteria provided clinical testing

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