Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387545 | SCV001588209 | pathogenic | not provided | 2020-01-21 | criteria provided, single submitter | clinical testing | This variant has been reported to affect MAP3K7 protein function (PMID: 27426734). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with cardiospondylocarpofacial syndrome (PMID: 27426734). It has also been observed to segregate with disease in related individuals. In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 264704). This variant is not present in population databases (ExAC no frequency). This variant, c.148_150del, results in the deletion of 1 amino acid(s) of the MAP3K7 protein (p.Val50del), but otherwise preserves the integrity of the reading frame. |
Mendelics | RCV000254567 | SCV002517591 | pathogenic | Cardiospondylocarpofacial syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000254567 | SCV000320737 | pathogenic | Cardiospondylocarpofacial syndrome | 2022-02-04 | no assertion criteria provided | literature only |