ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) (rs80338676)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178182 SCV000230197 uncertain significance not provided 2014-07-07 criteria provided, single submitter clinical testing
OMIM RCV000010614 SCV000030840 pathogenic Arts syndrome 2007-09-01 no assertion criteria provided literature only
GeneReviews RCV000010614 SCV000040928 pathologic Arts syndrome 2010-11-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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