Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762380 | SCV000892692 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533905 | SCV003652918 | uncertain significance | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | The c.4538T>C (p.M1513T) alteration is located in exon 27 (coding exon 24) of the MYLK gene. This alteration results from a T to C substitution at nucleotide position 4538, causing the methionine (M) at amino acid position 1513 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |