ClinVar Miner

Submissions for variant NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) (rs121918163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001023 SCV000021173 pathogenic Fanconi anemia, complementation group I 2007-04-20 no assertion criteria provided literature only
Leiden Open Variation Database RCV000001023 SCV001364862 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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