ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2168-15dup

dbSNP: rs762586890
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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 RCV001177198 SCV001341372 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-30 criteria provided, single submitter clinical testing
GeneDx RCV002291726 SCV002584379 likely benign not provided 2019-08-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769899 SCV004579099 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006372 SCV004818021 likely benign Marfan syndrome 2023-05-04 criteria provided, single submitter clinical testing

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