Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000937066 | SCV001082841 | benign | not provided | 2023-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002544518 | SCV003725370 | uncertain significance | Inborn genetic diseases | 2022-04-14 | criteria provided, single submitter | clinical testing | The c.2029T>C (p.S677P) alteration is located in exon 2 (coding exon 1) of the AMER1 gene. This alteration results from a T to C substitution at nucleotide position 2029, causing the serine (S) at amino acid position 677 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003141898 | SCV003826210 | uncertain significance | Osteopathia striata with cranial sclerosis | 2022-08-03 | criteria provided, single submitter | clinical testing |