ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468138 SCV004196780 pathogenic Fanconi anemia complementation group D2 2024-03-13 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003468138 SCV005420983 pathogenic Fanconi anemia complementation group D2 2024-09-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003468138 SCV005663280 likely pathogenic Fanconi anemia complementation group D2 2024-02-22 criteria provided, single submitter clinical testing

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