Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000871272 | SCV001012889 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539961 | SCV003689937 | uncertain significance | Inborn genetic diseases | 2022-07-27 | criteria provided, single submitter | clinical testing | The c.2732C>T (p.S911L) alteration is located in exon 18 (coding exon 15) of the MYLK gene. This alteration results from a C to T substitution at nucleotide position 2732, causing the serine (S) at amino acid position 911 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |