Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002521487 | SCV003738163 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.1354G>A (p.V452M) alteration is located in exon 9 (coding exon 9) of the DMPK gene. This alteration results from a G to A substitution at nucleotide position 1354, causing the valine (V) at amino acid position 452 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Knight Diagnostic Laboratories, |
RCV000415714 | SCV000493736 | uncertain significance | Steinert myotonic dystrophy syndrome | 2015-10-23 | no assertion criteria provided | clinical testing |