ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.770_772del (p.Tyr257_Gly258delinsCys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005047906 SCV005666862 uncertain significance Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; Oculopharyngeal muscular dystrophy 2 2024-06-11 criteria provided, single submitter clinical testing

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