Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732980 | SCV000860982 | uncertain significance | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004972926 | SCV005571601 | uncertain significance | Inborn genetic diseases | 2024-09-02 | criteria provided, single submitter | clinical testing | The c.2904G>A (p.M968I) alteration is located in exon 27 (coding exon 27) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 2904, causing the methionine (M) at amino acid position 968 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |