ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.258C>T (p.Asp86=)

gnomAD frequency: 0.00240  dbSNP: rs113689741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193031 SCV000248167 uncertain significance not specified 2014-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000645374 SCV000767119 benign Cernunnos-XLF deficiency 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531955 SCV001747305 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907700 SCV004726651 benign NHEJ1-related disorder 2019-07-08 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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