ClinVar Miner

Submissions for variant NM_001008781.2(FAT3):c.6916G>A (p.Val2306Ile) (rs863223333)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. RCV000201304 SCV000222727 uncertain significance Hirschsprung disease 1 2015-04-01 no assertion criteria provided research

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