Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002579186 | SCV003490544 | likely benign | not provided | 2024-02-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004073433 | SCV003874984 | uncertain significance | not specified | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.2908G>A (p.E970K) alteration is located in exon 19 (coding exon 19) of the CACNA1B gene. This alteration results from a G to A substitution at nucleotide position 2908, causing the glutamic acid (E) at amino acid position 970 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |