ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)

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Total submissions: 1
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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 RCV002285083 SCV002574812 likely pathogenic Fanconi anemia complementation group A 2022-09-22 criteria provided, single submitter clinical testing

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