ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)

dbSNP: rs2043314687
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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 RCV001189857 SCV001357223 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117830 SCV003799212 likely benign not provided 2022-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770140 SCV004597043 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-05-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010393 SCV004814690 likely benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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