ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3471+8A>T

gnomAD frequency: 0.00061  dbSNP: rs367643805
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724302 SCV000230766 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000225716 SCV000249943 benign not specified 2014-06-18 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.
Invitae RCV001086900 SCV000284815 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000225716 SCV000303999 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325639 SCV000425623 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659486 SCV000781301 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141922 SCV001302309 likely benign Ehlers-Danlos syndrome, classic type, 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277282 SCV002565830 likely benign Ehlers-Danlos syndrome 2020-04-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225716 SCV004028663 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001141922 SCV004563114 benign Ehlers-Danlos syndrome, classic type, 2 2023-10-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724302 SCV004810913 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing COL5A2: BP4, BS1
Blueprint Genetics RCV000143874 SCV000188743 uncertain significance Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 2014-01-08 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724302 SCV001929081 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724302 SCV001971833 likely benign not provided no assertion criteria provided clinical testing

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