Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726118 | SCV000342116 | pathogenic | not provided | 2016-05-24 | criteria provided, single submitter | clinical testing | |
Leeds Amelogenesis Imperfecta Research Group, |
RCV000399535 | SCV000494588 | pathogenic | Amelogenesis imperfecta type 2A1 | 2016-12-01 | no assertion criteria provided | research | Variant leads to a frameshift within the final exon. Therefore it is expected that the transcript would escape nonsense mediated decay and a protein would be produced: NM_004908:p.L211Rfs*37. This protein would lack 3 cysteine residues known to be involved in forming 3 of 6 disulphide bonds important to the structure of the KLK4 protein. |