Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000763528 | SCV000626058 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg399*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is present in population databases (rs137852924, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 12571802, 21199751, 23026208). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3383). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000578498 | SCV000680767 | pathogenic | not provided | 2021-07-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33452237, 29068549, 21199751, 23276573, 12571802, 17024374, 23026208, 25525159) |
Eurofins Ntd Llc |
RCV000578498 | SCV000859321 | pathogenic | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763528 | SCV000894340 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ai |
RCV000578498 | SCV002501386 | pathogenic | not provided | 2021-05-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003550 | SCV000023708 | pathogenic | Ellis-van Creveld syndrome | 2003-03-01 | no assertion criteria provided | literature only | |
Dan Cohn Lab, |
RCV000516144 | SCV000612085 | pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | 2017-06-01 | no assertion criteria provided | research | |
Dan Cohn Lab, |
RCV000003550 | SCV000612086 | pathogenic | Ellis-van Creveld syndrome | 2017-06-01 | no assertion criteria provided | research | |
Counsyl | RCV000003550 | SCV000791341 | pathogenic | Ellis-van Creveld syndrome | 2017-05-08 | no assertion criteria provided | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV000003550 | SCV001479600 | likely pathogenic | Ellis-van Creveld syndrome | no assertion criteria provided | research | ||
University of Washington Center for Mendelian Genomics, |
RCV000516144 | SCV001479761 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | no assertion criteria provided | research | ||
Prenatal Diagnosis Center, |
RCV000003550 | SCV004037445 | pathogenic | Ellis-van Creveld syndrome | no assertion criteria provided | literature only |