ClinVar Miner

Submissions for variant NM_014176.4(UBE2T):c.179+5G>A

dbSNP: rs796052212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000180790 SCV000233278 pathogenic Fanconi anemia complementation group T 2015-06-04 no assertion criteria provided literature only
Leiden Open Variation Database RCV000180790 SCV001364729 pathogenic Fanconi anemia complementation group T 2015-07-19 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan den Dunnen.

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