ClinVar Miner

Submissions for variant NM_005663.5(NELFA):c.925-10dup

gnomAD frequency: 0.00114  dbSNP: rs577653751
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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 RCV000880803 SCV001023925 benign not provided 2018-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930526 SCV004744319 likely benign NELFA-related disorder 2020-07-20 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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