ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=)

gnomAD frequency: 0.00215  dbSNP: rs61730098
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253576 SCV000312251 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000253576 SCV000593193 benign not specified 2021-06-21 criteria provided, single submitter clinical testing
Invitae RCV000954273 SCV001100896 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001108063 SCV001265257 benign Thrombocytopenia 2 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000954273 SCV001791974 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001108063 SCV002506025 likely benign Thrombocytopenia 2 2023-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001108063 SCV002539229 benign Thrombocytopenia 2 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954273 SCV005074403 benign not provided 2024-06-01 criteria provided, single submitter clinical testing ANKRD26: BP4, BP7, BS1, BS2

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