ClinVar Miner

Submissions for variant NG_007406.1:g.(5249_8228)_(17155_19960)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001030111 SCV000021453 pathogenic Fanconi anemia complementation group N 2007-02-01 no assertion criteria provided literature only
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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