ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.336C>T (p.Ile112=)

gnomAD frequency: 0.00003  dbSNP: rs368122140
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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 RCV002112405 SCV002388919 benign Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2024-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923574 SCV004743373 likely benign JAGN1-related disorder 2019-05-10 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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