Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001101482 | SCV001258096 | likely benign | Pyruvate kinase deficiency of red cells | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Broad Center for Mendelian Genomics, |
RCV001101482 | SCV001435280 | benign | Pyruvate kinase deficiency of red cells | criteria provided, single submitter | research | The heterozygous c.375+10G>T variant in PKLR has been identified in at least 2 individuals with pyruvate kinase deficiency, but was in cis to a missense variant in at least 1 family (PMID: 16704447). This variant has also been identified in >2% of European (Finnish) chromosomes and 23 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive pyruvate kinase deficiency. | |
ARUP Laboratories, |
RCV001811655 | SCV001477701 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001811655 | SCV002386753 | benign | not provided | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001811655 | SCV004124923 | benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | PKLR: BS1, BS2 |
Breakthrough Genomics, |
RCV001811655 | SCV005262244 | likely benign | not provided | criteria provided, single submitter | not provided |