ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.264+17T>G

gnomAD frequency: 0.00004  dbSNP: rs113451169
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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 RCV002201122 SCV002489770 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2024-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706426 SCV005226638 likely benign not provided criteria provided, single submitter not provided

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