ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)

gnomAD frequency: 0.00002  dbSNP: rs1183556572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301341 SCV001490507 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476396 SCV002786343 uncertain significance 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 2022-05-23 criteria provided, single submitter clinical testing

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