ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.1178G>A (p.Arg393His) (rs121912701)

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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 RCV000292281 SCV000332711 benign not specified 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488111 SCV000575353 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000488111 SCV001116864 benign not provided 2020-11-16 criteria provided, single submitter clinical testing
OMIM RCV000019742 SCV000040040 pathogenic Aminoacylase 1 deficiency 2007-06-12 no assertion criteria provided literature only

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