ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)

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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 Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287876 SCV002578170 uncertain significance Fanconi anemia complementation group D2 2022-09-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV002287876 SCV005057645 likely pathogenic Fanconi anemia complementation group D2 2023-12-13 criteria provided, single submitter clinical testing

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