Submissions for variant NM_017668.3(NDE1):c.948-5739G>A

gnomAD frequency: 0.03595  dbSNP: rs34839877

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030303	SCV000052970	benign	Familial aortopathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
GeneDx	RCV000177908	SCV000170490	benign	not specified	2012-11-12	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.
Eurofins Ntd Llc (ga)	RCV000177908	SCV000229867	benign	not specified	2014-08-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000177908	SCV000269271	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	5193-14C>T in intron 37 of MYH11: This variant is not expected to have clinical significance because it has been identified in 5.2% (227/4324) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs34839877).
PreventionGenetics, part of Exact Sciences	RCV000177908	SCV000306203	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625178	SCV000395234	benign	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 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	RCV000314142	SCV000395235	likely benign	Lissencephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625178	SCV000744015	benign	Aortic aneurysm, familial thoracic 4	2014-10-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000261295	SCV000902589	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121132	SCV001279685	likely benign	Lissencephaly 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811215	SCV001474586	benign	not provided	2023-11-10	criteria provided, single submitter	clinical testing
Invitae	RCV000625178	SCV002403356	benign	Aortic aneurysm, familial thoracic 4	2024-02-01	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000261295	SCV004822677	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625178	SCV000745957	benign	Aortic aneurysm, familial thoracic 4	2014-02-04	no assertion criteria provided	clinical testing