Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000291206 | SCV000344885 | uncertain significance | not provided | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002522023 | SCV003574173 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.3439G>C (p.D1147H) alteration is located in exon 31 (coding exon 31) of the DYSF gene. This alteration results from a G to C substitution at nucleotide position 3439, causing the aspartic acid (D) at amino acid position 1147 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |