ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.638G>A (p.Arg213His)

gnomAD frequency: 0.00001  dbSNP: rs1390969954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333552 SCV001526165 uncertain significance Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2018-01-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001333552 SCV005438194 uncertain significance Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2024-12-17 criteria provided, single submitter clinical testing

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