Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203099 | SCV000258157 | uncertain significance | not specified | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504777 | SCV001709663 | likely benign | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001504777 | SCV003194956 | uncertain significance | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing | Identified in a patient with a clinical diagnosis of Raine syndrome, including microcephaly, dysmorphic features, osteosclerosis, and developmental delay who also harbored the R1128K variant in TUBGCP6 and was homozygous for a variant in FAM20C; authors attributed patient phenotype to homozygosity of FAM20C variant (Sheth et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29751744) |