ClinVar Miner

Submissions for variant NC_000016.10:g.(23626398_23629203)_(23638130_23641109)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Open Variation Database RCV001030111 SCV001192912 pathogenic Fanconi anemia, complementation group N 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, LOVD-team, but with Curator vacancy, Marc Tischkowitz.

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