ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.6702G>T (p.Leu2234=)

gnomAD frequency: 0.00196  dbSNP: rs61738698
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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 RCV000900968 SCV001045313 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910749 SCV004727485 likely benign NBAS-related disorder 2023-02-13 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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