Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MVZ Praenatalmedizin und Genetik Nuernberg | RCV000844889 | SCV000965584 | likely benign | Achondrogenesis type II | 2019-05-31 | no assertion criteria provided | clinical testing | This variant was not listed in the databases (ClinVar, LOVD). GnomAD shows no entry (very rare or private variant). In silico analyses show contradictory results. We found this variant in a 26 year old healthy male and therefore rated this variant likely benign. |