ClinVar Miner

Submissions for variant NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter)

dbSNP: rs483353037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761832 SCV000892035 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee RCV000122455 SCV000154960 probable-pathogenic Chronic progressive multiple sclerosis no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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