ClinVar Miner

Submissions for variant NM_017668.3(NDE1):c.948-6833A>G

gnomAD frequency: 0.00039  dbSNP: rs111858392
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347334 SCV000395224 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641609 SCV000763251 likely benign Aortic aneurysm, familial thoracic 4 2023-06-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000641609 SCV001277491 uncertain significance Aortic aneurysm, familial thoracic 4 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health RCV001179331 SCV001343970 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001560580 SCV001783019 likely benign not provided 2018-08-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323511 SCV004028852 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001179331 SCV004823443 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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