Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176754 | SCV000228463 | benign | not specified | 2014-10-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000231868 | SCV000290057 | benign | Nephronophthisis | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986222 | SCV001135154 | benign | Nephronophthisis 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000986222 | SCV001256540 | benign | Nephronophthisis 4 | 2017-04-28 | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001100040 | SCV001256541 | benign | Senior-Loken syndrome 4 | 2017-04-28 | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Genome Diagnostics Laboratory, |
RCV002294063 | SCV002587781 | likely benign | Kidney disorder | 2017-02-13 | criteria provided, single submitter | clinical testing |