Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178589 | SCV000230701 | benign | not specified | 2015-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000205026 | SCV000260197 | benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000178589 | SCV000315823 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000205026 | SCV000464069 | likely benign | Autosomal recessive polycystic kidney disease | 2018-01-13 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000178589 | SCV000918004 | benign | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.7110-7T>A variant involves the alteration of a non-conserved intronic nucleotide. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 659/275722 control chromosomes (12 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.025178 (601/23870). This frequency is about 4 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. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. By applying ACMG rules (BS1, BS2), the variant was classified as Benign. |
Gene |
RCV001567004 | SCV001790610 | likely benign | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000205026 | SCV002078031 | benign | Autosomal recessive polycystic kidney disease | 2017-08-09 | no assertion criteria provided | clinical testing |