ClinVar Miner

Submissions for variant NM_145117.5(NAV2):c.1320G>A (p.Glu440=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003394780 SCV004129922 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing NAV2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003929030 SCV004740823 benign NAV2-related disorder 2019-12-11 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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