ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3350-88A>G

dbSNP: rs2054700381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001195003 SCV000021175 pathogenic Fanconi anemia complementation group I 2007-01-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195003 SCV001364881 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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