Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258533 | SCV000320801 | pathogenic | Cryptorchidism; Motor delay; Hallux valgus; Sacral dimple; Axial hypotonia; Ulnar deviation of the hand; Appendicular hypotonia; Absent vas deferens; Heart murmur | 2016-08-20 | criteria provided, single submitter | research |