ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.799-6del

dbSNP: rs767927599
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634738 SCV000756081 benign Ehlers-Danlos syndrome, type 4 2024-10-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773230 SCV000906842 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-29 criteria provided, single submitter clinical testing
GeneDx RCV001653962 SCV001868763 benign not provided 2017-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000773230 SCV002041943 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279459 SCV002565659 uncertain significance Ehlers-Danlos syndrome 2021-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000634738 SCV005427264 likely benign Ehlers-Danlos syndrome, type 4 2024-09-23 criteria provided, single submitter clinical testing

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