Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177910 | SCV000229869 | uncertain significance | not provided | 2015-05-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516759 | SCV003552275 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.3904T>C (p.S1302P) alteration is located in exon 37 (coding exon 37) of the DYSF gene. This alteration results from a T to C substitution at nucleotide position 3904, causing the serine (S) at amino acid position 1302 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000177910 | SCV003831342 | uncertain significance | not provided | 2022-10-27 | criteria provided, single submitter | clinical testing |