Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989767 | SCV001140320 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Otorhinolaryngology Lab - |
RCV000989767 | SCV001792219 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | criteria provided, single submitter | research | in compound heterozygosis with the c.3524_3525insA variant in a subject with bilateral non-syndromic sensorineural prelingual hearing loss |