Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001457287 | SCV001661088 | likely benign | 46,XY sex reversal 6 | 2024-02-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561257 | SCV003723521 | uncertain significance | Inborn genetic diseases | 2021-07-20 | criteria provided, single submitter | clinical testing | The c.917G>A (p.R306H) alteration is located in exon 4 (coding exon 4) of the MAP3K1 gene. This alteration results from a G to A substitution at nucleotide position 917, causing the arginine (R) at amino acid position 306 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |