ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.721_722del (p.Asn241fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314152 SCV004013285 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2023-06-12 criteria provided, single submitter clinical testing PVS1, PM2

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