Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455544 | SCV000538346 | uncertain significance | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 2 infertile Finnish men (Lund 2003), one 46, XY child with androgen insensitivity (Akcay 2014), and one individual with hypospadias (Kalfa 2013). |
Fulgent Genetics, |
RCV000766100 | SCV000897579 | uncertain significance | Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate | 2018-10-31 | criteria provided, single submitter | clinical testing |