Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002462892 | SCV002755680 | uncertain significance | Inborn genetic diseases | 2021-07-21 | criteria provided, single submitter | clinical testing | The p.A1021S variant (also known as c.3061G>T), located in coding exon 27 of the IKBKAP gene, results from a G to T substitution at nucleotide position 3061. The alanine at codon 1021 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002504389 | SCV002816428 | uncertain significance | Medulloblastoma; Familial dysautonomia | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277375 | SCV001464323 | uncertain significance | Familial dysautonomia | 2020-08-25 | no assertion criteria provided | clinical testing |