Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212847 | SCV001384448 | likely benign | Fanconi anemia | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561798 | SCV003703213 | uncertain significance | Inborn genetic diseases | 2022-07-27 | criteria provided, single submitter | clinical testing | The c.458T>A (p.I153N) alteration is located in exon 3 (coding exon 1) of the FANCB gene. This alteration results from a T to A substitution at nucleotide position 458, causing the isoleucine (I) at amino acid position 153 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |