Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082523 | SCV000114565 | benign | not specified | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082523 | SCV000315765 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000321817 | SCV000464023 | benign | Autosomal recessive polycystic kidney disease | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000321817 | SCV000557649 | benign | Autosomal recessive polycystic kidney disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705790 | SCV001832964 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001292299 | SCV001480578 | benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKHD1 p.Ile3905Asn variant was identified in dbSNP (ID: rs2661488) “With other allele” and in control databases in 7988 of 276978 chromosomes (184 homozygous) at a frequency of 0.03 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include African in 2274 (102 homozygous) of 24016 chromosomes (freq: 0.09), Other in 143 of 6456 chromosomes (freq: 0.02), Latino in 1011 (17 homozygous) of 34356 chromosomes (freq: 0.03), European Non-Finnish in 3354 (43 homozygous) of 126578 chromosomes (freq: 0.03), Ashkenazi Jewish in 285 (5 homozygous) of 10144 chromosomes (freq: 0.03), East Asian in 7 of 18856 chromosomes (freq: 0.0004), European Finnish in 299 (3 homozygous) of 25790 chromosomes (freq: 0.01), and South Asian in 615 (14 homozygous) of 30782 chromosomes (freq: 0.02). The p.Ile3905Asn residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory criteria to be classified as benign. | |
Genome Diagnostics Laboratory, |
RCV000082523 | SCV002033920 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000082523 | SCV002036752 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000321817 | SCV002075471 | benign | Autosomal recessive polycystic kidney disease | 2017-05-11 | no assertion criteria provided | clinical testing |