ClinVar Miner

Submissions for variant NM_001761.3(CCNF):c.540+3G>A

gnomAD frequency: 0.00013  dbSNP: rs772207315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925453 SCV001070989 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925779 SCV004739745 likely benign CCNF-related disorder 2019-05-20 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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