ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.782-1G>C

dbSNP: rs2142827936
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376022 SCV001573032 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2020-07-23 criteria provided, single submitter clinical testing

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