Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000393959 | SCV000345737 | uncertain significance | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001516152 | SCV001724383 | benign | Cystic fibrosis | 2021-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000393959 | SCV002770147 | uncertain significance | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | Identified in a male with normal semen analysis and in males with congenital bilateral absence of the vas deferens (CBAVD), however, segregation and detailed clinical information was not provided (Tamburino et al., 2008; Trujillano et al., 2015); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 26436105, 18616886) |