ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.294T>A (p.Asp98Glu)

dbSNP: rs1828864269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253196 SCV001428793 likely pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 2022-03-29 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1, PM2, PP2, PP3

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