ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1150-13T>C

gnomAD frequency: 0.00006  dbSNP: rs201839712
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124397 SCV000167830 benign not specified 2014-02-19 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659415 SCV000781228 uncertain significance Ehlers-Danlos syndrome, type 4 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776297 SCV000911598 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812004 SCV002049722 likely benign not provided 2021-10-28 criteria provided, single submitter clinical testing
Invitae RCV000659415 SCV002361798 benign Ehlers-Danlos syndrome, type 4 2023-12-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000659415 SCV004821022 benign Ehlers-Danlos syndrome, type 4 2024-02-05 criteria provided, single submitter clinical testing

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