Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672061 | SCV000797120 | uncertain significance | Ellis-van Creveld syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000672061 | SCV000915333 | uncertain significance | Ellis-van Creveld syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | The EVC c.364C>T (p.Pro122Ser) missense variant has been reported in a homozygous state in one patient with Ellis-van Creveld syndrome and in a heterozygous state in both unaffected parents (D'Asdia et al. 2013). The p.Pro122Ser variant was absent from 300 control chromosomes and is reported at a frequency of 0.00001 in the European (non-Finnish) population of the Genome Aggregation Database but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Pro122Ser variant is classified as a variant of unknown significance but suspicious for pathogenicity for Ellis-van Creveld syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Ce |
RCV000998211 | SCV001154155 | likely pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing |