ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.841+6A>G

gnomAD frequency: 0.00625  dbSNP: rs144309126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651716 SCV000773570 benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001537188 SCV001754039 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980270 SCV004789208 benign HNRNPA2B1-related disorder 2019-07-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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