ClinVar Miner

Submissions for variant NM_006079.5(CITED2):c.479A>T (p.His160Leu)

gnomAD frequency: 0.00211  dbSNP: rs111814036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971892 SCV001119569 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678701 SCV000804864 uncertain significance not specified 2017-08-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928165 SCV004740369 likely benign CITED2-related disorder 2022-02-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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