ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del)

dbSNP: rs2055264556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Open Variation Database RCV001194989 SCV001364865 pathogenic Fanconi anemia complementation group I 2012-04-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.

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