ClinVar Miner

Submissions for variant NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) (rs121918164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584965 SCV000692820 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
OMIM RCV000001024 SCV000021174 pathogenic Fanconi anemia, complementation group I 2007-01-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000001024 SCV001364861 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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