Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002948267 | SCV003274639 | benign | 46,XY sex reversal 6 | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004067320 | SCV004901490 | uncertain significance | Inborn genetic diseases | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.476C>T (p.P159L) alteration is located in exon 1 (coding exon 1) of the MAP3K1 gene. This alteration results from a C to T substitution at nucleotide position 476, causing the proline (P) at amino acid position 159 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |