Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002967844 | SCV003289793 | likely benign | not provided | 2025-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004065089 | SCV003623529 | uncertain significance | not specified | 2022-04-08 | criteria provided, single submitter | clinical testing | The c.637T>C (p.Y213H) alteration is located in exon 8 (coding exon 7) of the PLA2G4A gene. This alteration results from a T to C substitution at nucleotide position 637, causing the tyrosine (Y) at amino acid position 213 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |