Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Clinical Genetics, |
RCV000782171 | SCV000920639 | likely pathogenic | Perrault syndrome 2 | 2019-05-20 | no assertion criteria provided | clinical testing | Variant detected as compound heterozygous, together with c.448C>T in a girl with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to her young age. |