ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)

dbSNP: rs1235270306
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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 RCV001180087 SCV001344946 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558935 SCV003463317 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-07-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006622 SCV004814674 likely benign Marfan syndrome 2023-06-08 criteria provided, single submitter clinical testing

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