Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003256896 | SCV003975031 | uncertain significance | Inborn genetic diseases | 2023-04-04 | criteria provided, single submitter | clinical testing | The c.1837C>T (p.P613S) alteration is located in exon 10 (coding exon 8) of the CTNND1 gene. This alteration results from a C to T substitution at nucleotide position 1837, causing the proline (P) at amino acid position 613 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003492852 | SCV004234252 | uncertain significance | Blepharocheilodontic syndrome 2 | 2023-05-08 | criteria provided, single submitter | clinical testing |