ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=)

gnomAD frequency: 0.00481  dbSNP: rs117082250
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249930 SCV000314768 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000531531 SCV000654475 benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001709555 SCV001936968 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001709555 SCV004163850 benign not provided 2024-11-01 criteria provided, single submitter clinical testing HNRNPA2B1: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000249930 SCV001809104 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001709555 SCV001976243 likely benign not provided no assertion criteria provided clinical testing

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