Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825661 | SCV000967047 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Gln595Lys in exon 14 of CEP78: This variant is not expected to have clinical s ignificance because it has been identified in 0.76% (125/16476) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs61730342). |
Labcorp Genetics |
RCV000888800 | SCV001032453 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000888800 | SCV005266933 | benign | not provided | criteria provided, single submitter | not provided | ||
Ce |
RCV000888800 | SCV005434473 | likely benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | CEP78: BP4, BS2 |
Prevention |
RCV003928294 | SCV004744098 | likely benign | CEP78-related disorder | 2019-07-22 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |