ClinVar Miner

Submissions for variant NM_017668.3(NDE1):c.948-5740C>T

gnomAD frequency: 0.00019  dbSNP: rs373378619
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182477 SCV000234822 benign not specified 2014-11-11 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000182477 SCV000270432 likely benign not specified 2015-07-14 criteria provided, single submitter clinical testing c.5193-13G>A in intron 37 of MYH11: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 0.1% (11/11814) of European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs373378619).
Illumina Laboratory Services, Illumina RCV000353968 SCV000395233 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771355 SCV000903645 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121131 SCV001279684 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.
Invitae RCV001121131 SCV002401696 benign Aortic aneurysm, familial thoracic 4 2024-01-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000771355 SCV004823506 benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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