Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626964 | SCV000747667 | uncertain significance | Premature ovarian insufficiency | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000011541 | SCV000915304 | uncertain significance | Premature ovarian failure 2B | 2024-11-22 | criteria provided, single submitter | clinical testing | The POF1B c.986G>A (p.Arg329Gln) missense variant has been identified in individuals with premature ovarian failure and was shown to segregate with disease in one family (PMID:16773570; 15459172; 25676666). The highest frequency of this allele in the Genome Aggregation Database is 0.01419 in the Middle Eastern population, which includes two homozygotes (version 4.1.0). An additional 3 homozygotes are reported in the total population. Functional studies suggest that this variant impacts protein function (PMID: 16773570; 21940798). Multiple lines of computational evidence suggest the variant may not impact the gene or gene product. Based on the evidence the c.986G>A (p.Arg329Gln) variant is classified as a variant of uncertain significance for premature ovarian failure. |
Labcorp Genetics |
RCV000953408 | SCV001099981 | benign | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000011541 | SCV001367992 | uncertain significance | Premature ovarian failure 2B | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. |
Revvity Omics, |
RCV000011541 | SCV003809129 | uncertain significance | Premature ovarian failure 2B | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Center of Excellence, |
RCV000011541 | SCV004810151 | uncertain significance | Premature ovarian failure 2B | 2024-04-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011541 | SCV000031773 | pathogenic | Premature ovarian failure 2B | 2006-07-01 | flagged submission | literature only | |
Reproductive Development, |
RCV000011541 | SCV001810164 | likely pathogenic | Premature ovarian failure 2B | 2021-02-09 | flagged submission | research |