ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.641T>C (p.Leu214Pro)

gnomAD frequency: 0.00002  dbSNP: rs766618785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238622 SCV002011131 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Hadassah Hebrew University Medical Center RCV003388043 SCV004099516 likely benign Fanconi anemia complementation group L criteria provided, single submitter clinical testing

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