ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.*16C>T

gnomAD frequency: 0.00058  dbSNP: rs199912466
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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 RCV000368142 SCV000385311 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001580 SCV001158981 likely benign not specified 2019-05-24 criteria provided, single submitter clinical testing
GeneDx RCV001538474 SCV001756128 likely benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021578 SCV004887950 likely benign Inborn genetic diseases 2023-04-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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