ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1128C>T (p.His376=)

gnomAD frequency: 0.00006  dbSNP: rs771015742
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549662 SCV000631617 likely benign Ehlers-Danlos syndrome, type 4 2023-12-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659414 SCV000781227 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771858 SCV000904578 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227179 SCV002506307 likely benign not provided 2022-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537921 SCV004754361 likely benign COL3A1-related disorder 2024-01-24 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).
All of Us Research Program, National Institutes of Health RCV000549662 SCV004826841 likely benign Ehlers-Danlos syndrome, type 4 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771858 SCV005032184 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-25 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.

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