Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001171655 | SCV000615458 | uncertain significance | not provided | 2020-07-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171655 | SCV001334457 | uncertain significance | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001171655 | SCV002166325 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527533 | SCV003751081 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.2647C>T (p.R883C) alteration is located in exon 14 (coding exon 13) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 2647, causing the arginine (R) at amino acid position 883 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |