ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2328-9G>C

gnomAD frequency: 0.00188  dbSNP: rs73505419
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532645 SCV000626408 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001194824 SCV002069013 likely benign not specified 2020-12-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000532645 SCV002529298 likely benign Fanconi anemia 2021-11-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002490948 SCV002794556 likely benign Fanconi anemia complementation group P 2021-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935402 SCV004752795 likely benign SLX4-related disorder 2020-01-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Open Variation Database RCV001194824 SCV001364628 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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