Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003278665 | SCV003960299 | uncertain significance | Inborn genetic diseases | 2023-04-03 | criteria provided, single submitter | clinical testing | The c.808C>T (p.R270C) alteration is located in exon 8 (coding exon 7) of the PTPN5 gene. This alteration results from a C to T substitution at nucleotide position 808, causing the arginine (R) at amino acid position 270 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Psychiatry Genetics Yale University | RCV000084706 | SCV000116842 | not provided | not provided | no assertion provided | not provided |