ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) (rs551399966)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Open Variation Database RCV001194997 SCV001364874 pathogenic Fanconi anemia, complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
PerkinElmer Genomics RCV001194997 SCV002023039 pathogenic Fanconi anemia, complementation group I 2019-07-19 no assertion criteria provided clinical testing

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