ClinVar Miner

Submissions for variant NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg)

gnomAD frequency: 0.00010  dbSNP: rs540320780
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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. RCV000201299 SCV000222729 uncertain significance Hirschsprung disease, susceptibility to, 1 2015-04-01 no assertion criteria provided research

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