ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.234A>G (p.Val78=)

gnomAD frequency: 0.00002  dbSNP: rs747275893
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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 RCV002096202 SCV002395588 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2022-08-15 criteria provided, single submitter clinical testing

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