Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
King Laboratory, |
RCV000001897 | SCV001976382 | pathogenic | Chudley-McCullough syndrome | 2020-08-01 | criteria provided, single submitter | research | GPSM2 c.379C>T leads to a stop at codon 127. It is homozygous in 6 children with severe to profound pre-lingual hearing loss and ID in an extended Palestinian kindred (Abu Rayyan 2020). It is absent from 1300 Palestinian controls and is present in 4/282630 allele on gnomAD, all heterozygotes. |
OMIM | RCV000001897 | SCV000022053 | pathogenic | Chudley-McCullough syndrome | 2012-06-08 | no assertion criteria provided | literature only | |
Hereditary Research Laboratory, |
RCV000454206 | SCV000538094 | pathogenic | Hearing loss, autosomal recessive | 2016-06-04 | no assertion criteria provided | research | Severe to Profound |