Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000244819 | SCV000305743 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000755343 | SCV000604673 | benign | Polycystic kidney disease, adult type | 2020-07-07 | criteria provided, single submitter | clinical testing | |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV001254273 | SCV001430190 | benign | Autosomal dominant polycystic kidney disease | 2019-01-01 | criteria provided, single submitter | research | |
Gene |
RCV001709526 | SCV001937573 | benign | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22008521) |
Department of Pathology and Laboratory Medicine, |
RCV001291899 | SCV000592776 | benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The c.4665A>C, p.Ala1555Ala variant was identified in 16.87% of 20079 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015). |