Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000755755 | SCV000883303 | likely pathogenic | Spermatogenic failure 27 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Spermatogenic failure 27, autosomal recessive. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/29365104). PM1-Supporting => PM1 downgraded in strength to Supporting (https://www.uniprot.org/uniprot/Q96M32). PM2-Supporting => PM2 downgraded in strength to Supporting. |
Invitae | RCV002067184 | SCV002452353 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing |