Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000218238 | SCV000279733 | uncertain significance | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV000763779 | SCV000894688 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000763779 | SCV004177526 | uncertain significance | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004678649 | SCV005166474 | uncertain significance | Inborn genetic diseases | 2024-03-19 | criteria provided, single submitter | clinical testing | The c.10057T>C (p.Y3353H) alteration is located in exon 26 (coding exon 26) of the ASPM gene. This alteration results from a T to C substitution at nucleotide position 10057, causing the tyrosine (Y) at amino acid position 3353 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |