Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000761201 | SCV001245378 | likely pathogenic | Cone-rod dystrophy and hearing loss 2 | 2020-02-14 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Cone-rod dystrophy and hearing loss 2, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-Strong. |
OMIM | RCV000761201 | SCV000891117 | pathogenic | Cone-rod dystrophy and hearing loss 2 | 2019-03-14 | no assertion criteria provided | literature only |