Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, |
RCV001007666 | SCV000998532 | pathogenic | Microcephaly 5, primary, autosomal recessive | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003128717 | SCV003806235 | pathogenic | not provided | 2022-08-25 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state with a second ASPM variant in a patient with ASPM-related primary microcephaly in published literature, however, it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Passemard et al., 2009); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29431480, 20301772, 34402213, 31696992, 19808985, 19770472) |
Genome- |
RCV001007666 | SCV004178605 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Service de Génétique Moléculaire, |
RCV001007666 | SCV001432359 | likely pathogenic | Microcephaly 5, primary, autosomal recessive | no assertion criteria provided | clinical testing |