Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000903323 | SCV001047784 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Lupski Lab, |
RCV001002742 | SCV001160737 | uncertain significance | Premature ovarian failure | 2019-04-22 | criteria provided, single submitter | research | This variant was identified as homozygous in a female individual with hypergonadotropic hypogonadism and obesity. It was considered in conjuction with homozygous variants in CHD7 and MCM9 as causitive for the phenotype. |