ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)

dbSNP: rs527291598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184013 SCV001349883 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276655 SCV002565604 uncertain significance Ehlers-Danlos syndrome 2021-10-19 criteria provided, single submitter clinical testing
Invitae RCV003633570 SCV004458721 likely benign Ehlers-Danlos syndrome, type 4 2023-07-07 criteria provided, single submitter clinical testing

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