Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904393 | SCV001048907 | likely benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001997 | SCV001159812 | uncertain significance | Charcot-Marie-Tooth disease, type 4B3 | 2018-07-31 | criteria provided, single submitter | clinical testing | The SBF1 c.2785G>A; p.Val929Ile variant (rs370463792), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an overall allele frequency of 0.34% (81/23554 alleles) in the Genome Aggregation Database. The valine at codon 929 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the c.2785G>A; p.Val929Ile variant is uncertain at this time. |