ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.2340-10del

dbSNP: rs142040693
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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 RCV002616402 SCV003509636 benign not provided 2022-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898875 SCV004708648 likely benign NBAS-related disorder 2021-11-22 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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