ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)

dbSNP: rs2052048258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001194980 SCV000021172 pathogenic Fanconi anemia complementation group I 2007-06-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001194980 SCV001364854 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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