ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) (rs397514552)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000032830 SCV001367769 pathogenic Autism, susceptibility to, 18 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.
OMIM RCV000032830 SCV000056599 risk factor Autism, susceptibility to, 18 2012-12-21 no assertion criteria provided literature only

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