Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Lab, |
RCV000662353 | SCV000778845 | likely pathogenic | COG7 congenital disorder of glycosylation | 2018-06-29 | criteria provided, single submitter | clinical testing | Null variant (start codon) affecting gene COG7, which is a known mechanism of disease (gene COG7 is autosomal recessive). Allele not found in Broad gnomAD exomes despite good coverage=63 (greater than 20). |