Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945590 | SCV001091625 | likely benign | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002548230 | SCV003712671 | uncertain significance | Inborn genetic diseases | 2022-12-14 | criteria provided, single submitter | clinical testing | The c.1612C>G (p.L538V) alteration is located in exon 12 (coding exon 12) of the EVC gene. This alteration results from a C to G substitution at nucleotide position 1612, causing the leucine (L) at amino acid position 538 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |