Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000333932 | SCV000337778 | uncertain significance | not provided | 2015-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000687611 | SCV000815188 | benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000333932 | SCV002000963 | uncertain significance | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 284953; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003) |
Fulgent Genetics, |
RCV002503992 | SCV002815150 | 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 | 2021-09-01 | criteria provided, single submitter | clinical testing |