Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001309399 | SCV001498895 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034206 | SCV003864276 | uncertain significance | not specified | 2023-02-14 | criteria provided, single submitter | clinical testing | The c.6169C>T (p.R2057W) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 6169, causing the arginine (R) at amino acid position 2057 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |