ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.1021-6T>C

gnomAD frequency: 0.00014  dbSNP: rs377052216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468930 SCV000558925 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000986761 SCV001135877 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821348 SCV002064595 likely benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496824 SCV002809388 likely benign Fanconi anemia complementation group L 2021-09-25 criteria provided, single submitter clinical testing

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