Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607737 | SCV000720881 | likely benign | not specified | 2017-07-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000729837 | SCV000857529 | uncertain significance | not provided | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079453 | SCV001091890 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002531533 | SCV003563810 | uncertain significance | Inborn genetic diseases | 2021-08-13 | criteria provided, single submitter | clinical testing | The c.17134-6C>T intronic alteration results from a C to T substitution 6 nucleotides before exon 91 (coding exon 90) of the SYNE1 gene. Based on data from gnomAD, the T allele has an overall frequency of 0.02% (44/251412) total alleles studied. The highest observed frequency was 0.1% (10/10078) of Ashkenazi Jewish alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |