ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1055A>G (p.Asn352Ser)

gnomAD frequency: 0.00001  dbSNP: rs779203584
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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 RCV001291091 SCV001479457 likely pathogenic Intellectual disability no assertion criteria provided research

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