Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV001261606 | SCV001438890 | likely pathogenic | Meckel syndrome, type 6 | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV001261606 | SCV001521089 | likely pathogenic | Meckel syndrome, type 6 | 2019-12-24 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |