ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3040-12T>C

gnomAD frequency: 0.00001  dbSNP: rs757034411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773354 SCV000907048 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-18 criteria provided, single submitter clinical testing
GeneDx RCV001560682 SCV001783140 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523025 SCV004366827 likely benign Ehlers-Danlos syndrome, type 4 2024-10-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003523025 SCV004827550 likely benign Ehlers-Danlos syndrome, type 4 2024-03-24 criteria provided, single submitter clinical testing

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