ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.738dup (p.Met247fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461554 SCV004197267 likely pathogenic Fanconi anemia complementation group L 2023-08-07 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003461554 SCV005416314 likely pathogenic Fanconi anemia complementation group L criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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