ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)

gnomAD frequency: 0.00001  dbSNP: rs1478813051
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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 RCV001178421 SCV001342874 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334257 SCV001527051 uncertain significance Marfan syndrome 2018-06-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002065998 SCV002390337 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001334257 SCV004822451 likely benign Marfan syndrome 2023-09-05 criteria provided, single submitter clinical testing

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