ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.114C>G (p.Ser38=)

gnomAD frequency: 0.00054  dbSNP: rs141241764
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181045 SCV000233320 benign not specified 2014-11-05 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.
PreventionGenetics, part of Exact Sciences RCV000181045 SCV000302015 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000463884 SCV000554692 likely benign Ehlers-Danlos syndrome, type 4 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777600 SCV000738506 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-11 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659409 SCV000781220 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777600 SCV000913466 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093157 SCV001250005 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing COL3A1: BP4, BP7
Illumina Laboratory Services, Illumina RCV000463884 SCV001298978 benign Ehlers-Danlos syndrome, type 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000181045 SCV001372395 benign not specified 2020-06-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000777600 SCV003838072 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001093157 SCV001809081 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001093157 SCV001928632 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001093157 SCV001964430 likely benign not provided no assertion criteria provided clinical testing

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