ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)

dbSNP: rs397515808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224392 SCV002503027 uncertain significance not provided 2021-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487021 SCV002784591 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 2021-10-05 criteria provided, single submitter clinical testing

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