ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)

dbSNP: rs886044236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000330094 SCV000344064 uncertain significance not provided 2016-07-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487270 SCV002778790 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 2021-10-17 criteria provided, single submitter clinical testing

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