ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.1570-8G>A

gnomAD frequency: 0.00017  dbSNP: rs372757013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364408 SCV000337298 uncertain significance not provided 2015-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000364408 SCV005715030 likely benign not provided 2024-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957429 SCV004769288 likely benign CUL7-related disorder 2019-11-25 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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