ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5066-12C>T

dbSNP: rs531105331
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712680 SCV000727933 likely benign not provided 2020-01-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772673 SCV000905932 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064327 SCV002443741 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491287 SCV002804291 likely benign Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-09-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004767438 SCV005380695 likely benign not specified 2024-08-11 criteria provided, single submitter clinical testing

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