Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001722421 | SCV001948857 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Central Research Laboratory, |
RCV000498278 | SCV000590814 | pathogenic | Congenital heart disease | 2017-01-07 | no assertion criteria provided | clinical testing | |
Reproductive Health Research and Development, |
RCV000498278 | SCV001142384 | benign | Congenital heart disease | 2020-01-06 | no assertion criteria provided | curation | NG_008177.2(NM_002052.4):c.1146+177C>T in the gene GATA4 has an allele frequency of 0.223 in European (non-Finnish) subpopulation in the gnomAD database. 435 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2. |
Genome Diagnostics Laboratory, |
RCV001579828 | SCV001808647 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001579828 | SCV001959946 | benign | not specified | no assertion criteria provided | clinical testing |