Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527674 | SCV000652878 | likely benign | MEGF8-related Carpenter syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002530218 | SCV003612742 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.5080C>G (p.L1694V) alteration is located in exon 29 (coding exon 29) of the MEGF8 gene. This alteration results from a C to G substitution at nucleotide position 5080, causing the leucine (L) at amino acid position 1694 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |