ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.164+12G>A

gnomAD frequency: 0.00001  dbSNP: rs571164659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002085268 SCV002377918 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498284 SCV002806625 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 2021-09-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690243 SCV005185573 likely benign not specified 2024-05-20 criteria provided, single submitter clinical testing

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