Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002136276 | SCV002467647 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003134395 | SCV003812742 | uncertain significance | Donnai-Barrow syndrome | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004046996 | SCV004897462 | uncertain significance | Inborn genetic diseases | 2023-12-08 | criteria provided, single submitter | clinical testing | The c.13880C>T (p.S4627L) alteration is located in exon 79 (coding exon 79) of the LRP2 gene. This alteration results from a C to T substitution at nucleotide position 13880, causing the serine (S) at amino acid position 4627 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |