Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658467 | SCV000780239 | uncertain significance | not provided | 2024-02-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001080173 | SCV001096628 | likely benign | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-09-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004972838 | SCV005585148 | uncertain significance | Inborn genetic diseases | 2024-07-22 | criteria provided, single submitter | clinical testing | The c.3859G>A (p.V1287I) alteration is located in exon 22 (coding exon 22) of the EVC2 gene. This alteration results from a G to A substitution at nucleotide position 3859, causing the valine (V) at amino acid position 1287 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |