ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3526-10C>T

gnomAD frequency: 0.00001  dbSNP: rs376171095
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659431 SCV000781245 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862499 SCV001003012 likely benign Ehlers-Danlos syndrome, type 4 2024-09-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179868 SCV001344665 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-26 criteria provided, single submitter clinical testing
GeneDx RCV001571899 SCV001796456 likely benign not provided 2019-04-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279477 SCV002565637 uncertain significance Ehlers-Danlos syndrome 2022-01-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001179868 SCV003838690 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-22 criteria provided, single submitter clinical testing

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