Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904393 | SCV001048907 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001997 | SCV001159812 | uncertain significance | Charcot-Marie-Tooth disease type 4B3 | 2021-09-27 | 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; however, this variant is listed in the ClinVar database (Variation ID: 729706). This variant is found in the African population with an overall allele frequency of 0.35% (83/23700 alleles) in the Genome Aggregation Database. The valine at codon 929 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.107). Based on the available information, the clinical significance of this variant is uncertain. |