ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1601+5G>A

dbSNP: rs2139531134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801266 SCV002047475 likely pathogenic Intellectual developmental disorder with autism and macrocephaly 2021-09-20 criteria provided, single submitter clinical testing

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