Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000320855 | SCV000337801 | uncertain significance | not provided | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084730 | SCV001018739 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000320855 | SCV001769480 | uncertain significance | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002521929 | SCV003696477 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.22245T>G (p.N7415K) alteration is located in exon 122 (coding exon 121) of the SYNE1 gene. This alteration results from a T to G substitution at nucleotide position 22245, causing the asparagine (N) at amino acid position 7415 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |