Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000686063 | SCV000813566 | benign | Kleefstra syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026222 | SCV004862362 | uncertain significance | Inborn genetic diseases | 2023-12-18 | criteria provided, single submitter | clinical testing | The c.3294G>T (p.E1098D) alteration is located in exon 23 (coding exon 23) of the EHMT1 gene. This alteration results from a G to T substitution at nucleotide position 3294, causing the glutamic acid (E) at amino acid position 1098 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |