ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.746_756del (p.Pro249fs)

dbSNP: rs2104799800
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806294 SCV002053787 pathogenic Fanconi anemia complementation group L criteria provided, single submitter clinical testing

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