Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087713 | SCV000645829 | likely benign | Legius syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000680880 | SCV000808329 | uncertain significance | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | Identified in a patient and sibling with cafe-au-lait macules and freckling; however, a large deletion of the NF1 gene was also identified (Pacot et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22753041, 31443423) |
Illumina Laboratory Services, |
RCV001087713 | SCV001274829 | uncertain significance | Legius syndrome | 2017-10-13 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ambry Genetics | RCV002526159 | SCV003725801 | uncertain significance | Inborn genetic diseases | 2021-08-23 | criteria provided, single submitter | clinical testing | The c.944C>T (p.P315L) alteration is located in exon 7 (coding exon 7) of the SPRED1 gene. This alteration results from a C to T substitution at nucleotide position 944, causing the proline (P) at amino acid position 315 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |