ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.117+4T>C

gnomAD frequency: 0.03091  dbSNP: rs41275982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252953 SCV000314766 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000526199 SCV000654472 benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001683120 SCV001897003 benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000252953 SCV001808942 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252953 SCV001974234 benign not specified no assertion criteria provided clinical testing

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