Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000415377 | SCV000328843 | pathogenic | Oculocutaneous albinism type 4 | 2016-05-01 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in SLC45A2 (NM_016180.3:c.163dupT) and AVPR2 (NM_000054.4:c.335G>T) in an individual with oculocutaneous albinism, nephrogenic diabetes insipidus, bilateral hydronephrosis, mild dysmorphic features, delayed motor milestones and hypotonia. |