ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)

gnomAD frequency: 0.00120  dbSNP: rs28763920
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125085 SCV000168525 benign not specified 2013-02-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000232202 SCV000287284 benign Congenital contractural arachnodactyly 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002310703 SCV000318323 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-04-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000232202 SCV000745422 likely benign Congenital contractural arachnodactyly 2017-06-28 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659632 SCV000781474 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232202 SCV001317910 benign Congenital contractural arachnodactyly 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.
CeGaT Center for Human Genetics Tuebingen RCV001532519 SCV001748121 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277265 SCV002565981 likely benign Ehlers-Danlos syndrome 2020-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000659632 SCV002566603 likely benign Connective tissue disorder 2020-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001532519 SCV003800359 benign not provided 2022-03-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125085 SCV004039313 benign not specified 2023-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925236 SCV004746787 likely benign FBN2-related disorder 2021-02-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000232202 SCV000745921 benign Congenital contractural arachnodactyly 2015-01-08 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001532519 SCV001927434 likely benign not provided no assertion criteria provided clinical testing

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