Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224771 | SCV001396991 | likely benign | Congenital contractural arachnodactyly | 2023-04-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812258 | SCV002049789 | uncertain significance | not provided | 2021-10-07 | criteria provided, single submitter | clinical testing | The FBN2 c.6439G>A; p.Asp2147Asn variant (rs370650204), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 952629). This variant is found in the general population with an overall allele frequency of 0.002% (8/282746 alleles, including one homozygote) in the Genome Aggregation Database. The aspartate at codon 2147 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.393). Given the lack of clinical and functional data, the significance of the p.Asp2147Asn variant is uncertain at this time. |