ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7236T>C (p.Val2412=)

dbSNP: rs1306021418
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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 RCV001177470 SCV001341695 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797822 SCV002041889 likely benign not specified 2021-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497620 SCV002812488 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 2021-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559725 SCV003249494 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-11 criteria provided, single submitter clinical testing

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