ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val)

gnomAD frequency: 0.00001  dbSNP: rs1416564508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001291502 SCV001480007 association Autism spectrum disorder no assertion criteria provided research

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