Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Genomics Program, |
RCV004733988 | SCV005367913 | uncertain significance | Congenital long QT syndrome | no assertion criteria provided | research | The c.1354G>A missense variant in MIDN is present in gnomAD with an allele count of 6 and no homozygous individuals reported (PM2). It is present in our patient and his affected brother. SIFT predictions indicate an uncertain impact (0.008). ACMG codes: PM1, PM2. |