ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.476-16G>A

dbSNP: rs546524344
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002090499 SCV002370973 benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2025-01-07 criteria provided, single submitter clinical testing

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