ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6037+9G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224676 SCV003919951 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 2022-11-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Though this variant occurs in the splice region, computational prediction tools do not suggest that it impacts splicing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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