ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)

dbSNP: rs2043485390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001257272 SCV001433816 pathogenic Scoliosis; Pes planus; Myopia; Pectus carinatum; Striae distensae; Mitral valve prolapse; Aortic root aneurysm; Pes valgus; Ectopia lentis 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP5,PP3,PM1,PP2. This variant was detected in homozygous state.

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