ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.964C>T (p.His322Tyr)

dbSNP: rs772768595
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548806 SCV000626226 likely benign Fanconi anemia 2024-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000674060 SCV000799333 uncertain significance Fanconi anemia complementation group A 2018-04-13 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000674060 SCV004801156 pathogenic Fanconi anemia complementation group A 2024-03-14 criteria provided, single submitter research
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000674060 SCV005046845 likely pathogenic Fanconi anemia complementation group A criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005001073 SCV005625531 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing The FANCA c.964C>T (p.His322Tyr) variant has been reported in the published literature in an individual affected with Fanconi anemia (FA) in a homozygous state (PMID: 34585473 (2021)). The frequency of this variant in the general population, 0.00046 (14/30616 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV000674060 SCV005646678 uncertain significance Fanconi anemia complementation group A 2024-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674060 SCV001457965 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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