ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.348T>C (p.Leu116=)

gnomAD frequency: 0.00006  dbSNP: rs369903398
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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 RCV002133312 SCV002449237 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2022-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895932 SCV004708989 likely benign HNRNPA2B1-related disorder 2022-04-12 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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