ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.433-15A>C

gnomAD frequency: 0.00213  dbSNP: rs752897261
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282800 SCV000477427 benign Lethal congenital contracture syndrome 1 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.
Illumina Laboratory Services, Illumina RCV000342586 SCV000477428 benign Lethal arthrogryposis-anterior horn cell disease syndrome 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 RCV001597125 SCV001830853 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Invitae RCV001597125 SCV004537192 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828366 SCV002082200 benign Lethal congenital contractural syndrome Finnish type 2019-10-28 no assertion criteria provided clinical testing

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