ClinVar Miner

Submissions for variant NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met)

gnomAD frequency: 0.00001  dbSNP: rs1277857720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000853101 SCV000995956 likely pathogenic Intellectual disability; Neurodevelopmental delay 2019-05-30 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001261673 SCV001438978 likely pathogenic Neurodevelopmental disorders no assertion criteria provided research

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