Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664770 | SCV000788781 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-01-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664770 | SCV001000843 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000664770 | SCV001324926 | benign | Autosomal recessive polycystic kidney disease | 2017-04-27 | 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. |
Revvity Omics, |
RCV003129981 | SCV003808417 | uncertain significance | Polycystic kidney disease 4 | 2019-12-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000664770 | SCV001455236 | likely benign | Autosomal recessive polycystic kidney disease | 2020-01-08 | no assertion criteria provided | clinical testing |