Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592298 | SCV000706171 | uncertain significance | not provided | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Laboratory of Prof. |
RCV001004789 | SCV001164275 | likely pathogenic | Perrault syndrome 3 | 2018-05-07 | criteria provided, single submitter | research | Recessive, compound heterozygous with NM_00601.2:[c.233G>C]; congenital, profound HL; auditory neropathy |