ClinVar Miner

Submissions for variant NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)

dbSNP: rs774357609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000180789 SCV002022503 pathogenic Fanconi anemia complementation group T 2020-03-20 criteria provided, single submitter clinical testing
OMIM RCV000180789 SCV000233277 pathogenic Fanconi anemia complementation group T 2015-06-04 no assertion criteria provided literature only
Leiden Open Variation Database RCV000180789 SCV001364731 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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