Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics, |
RCV003994751 | SCV004812833 | benign | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2023-05-04 | criteria provided, single submitter | clinical testing | African/African American population allele frequency is 5.392% (rs773651797, 469/8,698 alleles, 17 homozygotes in gnomAD v3.1). The results from multiple in silico splicing predictors (SpliceAI, MaxEntScan, NNSplice) indicate that this variant may not impact splicing of the donor splice site of intron 2 of TTI2. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as BENIGN. Following criteria are met: BA1, PP3 |