Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000261036 | SCV000338796 | uncertain significance | not provided | 2016-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372677 | SCV004094101 | uncertain significance | Inborn genetic diseases | 2023-08-22 | criteria provided, single submitter | clinical testing | The c.1236G>T (p.K412N) alteration is located in exon 13 (coding exon 13) of the DYSF gene. This alteration results from a G to T substitution at nucleotide position 1236, causing the lysine (K) at amino acid position 412 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |