Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000297368 | SCV000336338 | uncertain significance | not provided | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000297368 | SCV002818988 | uncertain significance | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 24438169) |
Ambry Genetics | RCV003343739 | SCV004066205 | uncertain significance | Inborn genetic diseases | 2023-08-15 | criteria provided, single submitter | clinical testing | The c.5333T>G (p.I1778S) alteration is located in exon 47 (coding exon 47) of the DYSF gene. This alteration results from a T to G substitution at nucleotide position 5333, causing the isoleucine (I) at amino acid position 1778 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |