Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318771 | SCV000850140 | uncertain significance | Inborn genetic diseases | 2023-11-07 | criteria provided, single submitter | clinical testing | The c.3775A>C (p.I1259L) alteration is located in exon 12 (coding exon 7) of the MBD5 gene. This alteration results from a A to C substitution at nucleotide position 3775, causing the isoleucine (I) at amino acid position 1259 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV001305182 | SCV001494505 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2021-09-01 | criteria provided, single submitter | clinical testing |