Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000735843 | SCV000844957 | likely pathogenic | X-linked Alport syndrome | 2018-10-08 | no assertion criteria provided | clinical testing | The observed COL4A6 deletion was not observed in the 1000 Genomes and ExAC databases. The in silico prediction of given variant is damaging by MutationTaster2. COL4A6 deletion was observed along with COL4A5 deletion causing hemizygous contiguous gene deletion. |