Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fan Lab, |
RCV000681452 | SCV000807187 | likely pathogenic | Chédiak-Higashi syndrome | 2018-04-23 | no assertion criteria provided | clinical testing | This splicing mutation was identified in a 4-year-old female patient who diagnosed with Chediak-Higashi Syndrome. It was inherited from the patient's father and considered as a part of a compound heterozygote together with another heterozygous mutation c.5719A>G in CHS1/LYST gene. The patient showed typical clinical features of CHS, while her parents were healthy. |