Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589325 | SCV000695599 | uncertain significance | not provided | 2016-06-17 | criteria provided, single submitter | clinical testing | Variant summary: The FBN1 c.7501G>C (p.Val2501Leu) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a benign outcome for this substitution (SNPs&GO not captured due to low reliability index, PolyPhen-2 not functioning at the time of scoring). This variant was found in 2/121202 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Fulgent Genetics, |
RCV002483564 | SCV002778348 | 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 | 2021-08-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003767333 | SCV004572940 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-03-15 | criteria provided, single submitter | clinical testing |