ClinVar Miner

Submissions for variant NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)

dbSNP: rs397518452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781388 SCV002016610 likely pathogenic not provided 2020-05-25 criteria provided, single submitter clinical testing
OMIM RCV000055649 SCV000083874 pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 2015-05-01 no assertion criteria provided literature only

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