ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.1702-10T>C

gnomAD frequency: 0.00359  dbSNP: rs151017109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974541 SCV001122370 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000974541 SCV001773536 likely benign not provided 2022-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503102 SCV002804430 likely benign Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2021-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974541 SCV005218570 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004543639 SCV004787371 benign CTCF-related disorder 2022-04-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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