Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224399 | SCV000281264 | uncertain significance | not provided | 2015-12-21 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Ambry Genetics | RCV003380520 | SCV004089900 | uncertain significance | Inborn genetic diseases | 2023-08-14 | criteria provided, single submitter | clinical testing | The c.5051C>T (p.T1684I) alteration is located in exon 26 (coding exon 25) of the NIPBL gene. This alteration results from a C to T substitution at nucleotide position 5051, causing the threonine (T) at amino acid position 1684 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |