ClinVar Miner

Submissions for variant NM_017668.3(NDE1):c.948-9293G>A

gnomAD frequency: 0.00034  dbSNP: rs374454501
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244318 SCV000306212 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367827 SCV000395190 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396051 SCV000395191 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119047 SCV001277385 uncertain significance Aortic aneurysm, familial thoracic 4 2018-01-12 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.
GeneDx RCV001668454 SCV001890727 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000244318 SCV002074165 benign not specified 2022-01-02 criteria provided, single submitter clinical testing
Invitae RCV001119047 SCV002427287 likely benign Aortic aneurysm, familial thoracic 4 2024-01-27 criteria provided, single submitter clinical testing

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