ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)

gnomAD frequency: 0.00001  dbSNP: rs140629
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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 RCV002536270 SCV001006198 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501242 SCV002805912 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 2021-08-24 criteria provided, single submitter clinical testing

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