Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082499 | SCV000114541 | uncertain significance | not provided | 2015-08-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002514444 | SCV003623406 | uncertain significance | Inborn genetic diseases | 2022-06-29 | criteria provided, single submitter | clinical testing | The c.6557A>G (p.E2186G) alteration is located in exon 38 (coding exon 37) of the NIPBL gene. This alteration results from a A to G substitution at nucleotide position 6557, causing the glutamic acid (E) at amino acid position 2186 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |