ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.739+14G>A

gnomAD frequency: 0.00002  dbSNP: rs1390709680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196331 SCV001366922 uncertain significance Cutis laxa, autosomal dominant 2 2019-08-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560220 SCV002935878 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing

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