ClinVar Miner

Submissions for variant NM_001012614.2(CTBP1):c.486C>T (p.Arg162=)

gnomAD frequency: 0.01026  dbSNP: rs1045458
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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 RCV001512692 SCV001720151 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001512692 SCV002544854 benign not provided 2024-08-01 criteria provided, single submitter clinical testing CTBP1: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002501769 SCV002805536 likely benign 4p partial monosomy syndrome; Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512692 SCV005306421 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931066 SCV004740806 benign CTBP1-related disorder 2020-03-06 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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