Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229654 | SCV000290649 | likely benign | Left ventricular noncompaction 8 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705285 | SCV000582942 | likely benign | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002518357 | SCV003676988 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.2741T>C (p.M914T) alteration is located in exon 11 (coding exon 11) of the PRDM16 gene. This alteration results from a T to C substitution at nucleotide position 2741, causing the methionine (M) at amino acid position 914 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |