ClinVar Miner

Submissions for variant NM_001365.5(DLG4):c.20-1G>C

gnomAD frequency: 0.00001  dbSNP: rs759282824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002543014 SCV003611988 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing This region of the gene is excluded from other biologically relevant transcripts Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291270 SCV001479696 association Autism spectrum disorder no assertion criteria provided research

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