Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591807 | SCV000703162 | pathogenic | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341517 | SCV002640377 | pathogenic | Inborn genetic diseases | 2018-03-09 | criteria provided, single submitter | clinical testing | The c.4760_4763delTGTT pathogenic mutation, located in coding exon 22 of the NIPBL gene, results from a deletion of 4 nucleotides at nucleotide positions 4760 to 4763, causing a translational frameshift with a predicted alternate stop codon (p.L1587*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |