Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004153900 | SCV003627635 | uncertain significance | not specified | 2022-06-30 | criteria provided, single submitter | clinical testing | The c.2926G>T (p.A976S) alteration is located in exon 23 (coding exon 20) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 2926, causing the alanine (A) at amino acid position 976 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |