Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002958728 | SCV003278877 | benign | Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 2022-09-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002958727 | SCV003729470 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.2971C>T (p.R991C) alteration is located in exon 22 (coding exon 21) of the PDGFRB gene. This alteration results from a C to T substitution at nucleotide position 2971, causing the arginine (R) at amino acid position 991 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |