ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.903C>T (p.Tyr301=)

gnomAD frequency: 0.00001  dbSNP: rs760203875
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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 RCV002548334 SCV001116366 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2018-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962856 SCV004781003 likely benign HNRNPA2B1-related disorder 2023-01-30 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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