ClinVar Miner

Submissions for variant NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) (rs121912682)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173624 SCV000224749 uncertain significance not provided 2014-11-10 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000019935 SCV000267211 likely pathogenic Muscle AMP deaminase deficiency 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000019935 SCV001723691 benign Muscle AMP deaminase deficiency 2020-08-07 criteria provided, single submitter clinical testing
OMIM RCV000019935 SCV000040233 pathogenic Muscle AMP deaminase deficiency 2000-12-01 no assertion criteria provided literature only

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