Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224004 | SCV000281093 | benign | not provided | 2015-09-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000232929 | SCV000291337 | benign | Autosomal recessive polycystic kidney disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082565 | SCV000315821 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000082565 | SCV000331166 | benign | not specified | 2016-06-20 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000232929 | SCV000464074 | likely benign | Autosomal recessive polycystic kidney disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000224004 | SCV000699872 | benign | not provided | 2016-10-31 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.6333-8_6333-7delTT variant involves the deletion of two non-conserved intronic nucleotides. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1283/110896 control chromosomes (75 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.1271383 (1204/9470). This frequency is about 18 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Gene |
RCV000224004 | SCV001894656 | benign | not provided | 2019-08-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490729 | SCV002804360 | likely benign | Polycystic kidney disease 4 | 2021-07-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000232929 | SCV002078052 | benign | Autosomal recessive polycystic kidney disease | 2017-03-29 | no assertion criteria provided | clinical testing |